European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Clinical genetics Posters Po01. Clinical genetics P0001. A 17q21.31 microduplication (including MAPT) and a 2q22.3q23.1 microdeletion (including ACVR2A) detected by routine array-CGH analysis using 244k Agilent oligoarrays in two patients with mental retardation and dysmorphic features M. Kirchhoff1 , A. M. Bisgaard1 , M. Duno1 , F. J. Hansen2 , H. Rose1 , M. Schwartz1 ; 1 2 Department of Clinical Genetics, Rigshospital, Copenhagen, Denmark, Department of Pediatric Neurology, Rigshospital, Copenhagen, Denmark. Two cases with de novo chromosomal imbalances detected by routine screening using 244k Agilent oligoarrays are presented. In case 1, a microduplication of 17q21.31 was found (approximately 0.5 Mb). The duplication is reciprocal to the recently described 17q21.31 microdeletion and includes the MAPT gene. The patient is a nine-year-old girl with severe psychomotor developmental delay. Her facial dysmorphism includes a low anterior and posterior hairline, a small nose with a flat root, a long philtrum, and small widely spaced teeth. In addition, she has microcephaly, abnormal fingers and toes, and hirsutism with very long hairs on her back. In case 2, a microdeletion of 2q22.3q23.1 was found (approximately 0.4 Mb). The deletion includes the ACVR2A gene, which has been associated with cranio-facial development in mice. The patient is a three-year-old girl. Her psychomotor development is approximately 12 months delayed. Her facial dysmorphism includes lateral extension of eyebrows, a low anterior hairline, long palpebral fissures, a high nasal bridge giving the impression of deepset eyes, a bulbous nasal tip, a thin upper lip, and micrognathia/retrognathia. In addition, she is microcephalic, hypermobile and hypotonic. Beside the two patients an outline will be presented from seven months of routine CGH-analysis using 244k Agilent oligoarrays of patients with mental retardation and dysmorphic features. P0002. Clinical and cytogenetic aspects in two children with trisomy 18 M. Budisteanu 1 , A. Arghir 1 , I. Minciu 2 , S. Magureanu 2 , G. Chelu 1 , A. Lungeanu 1 ; 1 ”Victor Babes” National Institute of Research and Development, Bucharest, Romania, 2 Clinical Hospital of Psychiatry “Prof. Dr. Al. Obregia”, Bucharest, Romania. Objective: The authors present two cases of trisomy 18 with different clinical and cytogenetic characteristics. Material and methods: The children were admitted to the Department of Pediatric Neurology of the Clinical Hospital Al. Obregia, Bucharest for evaluation of a delayed psychomotor development. They were included in a large study, part of a national research program, which investigate the cytogenetic causes of MR in children. First case, an eight years old girl, showed: dysmorphic features, severe MR, hyperkinesia with self-injurious behavior. Second case, a four months old girl, displayed the clinical phenotype characteristic of Edwards syndrome (including dysmorphic features, failure to thrive, arthrogryposis, epileptic seizures, brain malformation). The children were investigated cytogenetically by karyotype with GTG-banding. Results: In the first case, the cytogenetic investigation revealed a partial trisomy 18pter-18q21. In the second case, the diploid karyotype showed a duplication of the long arm of chromosome 18. Conclusions: The phenotype of the patients with trisomy 18 can be different depending on the specific triplicated chromosomal region. For a better description of the sequences involved in the breakpoints in this two cases, we intend to extend the study by applying molecular genetic methods. P0003. CYP21A2 genotyping in an Italian population with 21hydroxylase deficiency: molecular characterization of 1050 alleles L. Baldazzi1 , S. Menabò1 , A. Balsamo1 , M. Barbaro1,2 , A. Nicoletti1 , G. Cangemi1 , A. Cicognani1 ; 1Pediatric Department S.Orsola-Malpighi University Hospital, Bologna, Italy, 2Center for Molecular Medicine Karolinska University Hospital, Stockolm, Sweden. Steroid 21-hydroxylase deficiency (21OHD), an autosomal recessive disorder caused by mutations in the CYP21A2 gene and responsible for >90% of cases of congenital adrenal hyperplasia, presents a wide phenotypic spectrum ranging from a severe classical form (CL, 1/15000) with or without salt wasting, through to a mild nonclassical form (NC, 1/100), to a hyperandrogenic adult form. The active gene and the inactive pseudogene CYP21P are organized in a complex locus on chromosome 6p21.3. Most of the genetic lesions that cause 21OHD are deletions/conversions (often giving rise to chimeric CYP21P/CYP21 genes) or various gene conversion-type mutations resulting in CYP21 genes carrying one/multiple pseudogenic mutations. Mutations arising independently of the pseudogene are rare. A molecular strategy analysis that combines specific PCR (designated to avoid allele dropout phenomena caused by pseudogene sequences and to discover a chimeric gene), sequencing of the entire CYP21A2 gene region (from nt-420 to nt+2907), as well as intragenic polymorphism segregation analysis, enabled us to characterize a total of 1050 alleles of: 383 21OHD patients (162 CL, 231 NC) and 136 hyperandrogenic subjects with 98.8% of mutation detection. Mutations were confirmed in the parents in 85% of the cases. Single/multiple pseudogene-derived mutations account for 93.2% of the alleles, whereas 5.6% carry a rare/new mutation, mostly missense mutations affecting a conserved residue. Functional studies of 3 new mutations confirmed their implication in the phenotype observed. The genotype/phenotype relationship was generally good. Further studies will focus on rare variants in the non coding regions associated with mild forms. P0004. A boy with 3q29 microdeletion and congenital mitral valve stenosis A. Stray-Pedersen1 , K. L. Eiklid2 , K. Ramstad1 , O. K. Rødningen2 ; 1 2 Rikshospitalet-Radiumhospitalet, Oslo, Norway, Ulleval University Hospital, Oslo, Norway. We present an 8 year old boy with congenital mitral valve stenosis and mental retardation. Clinical findings: progressive microcephaly, epicanthus, antimongoloid eye shape, oedematous eyelids, prominent nasal tip, irregularly and widely spaced teeth. He has hypotonic musculature with pronounced joint laxity both elbows. He has overriding 2nd toes, fetal pads toes and fingers. He is developmentally retarded. He started to walk at 23 months of age. His language is severely delayed, and he has autistic-like features. Array CGH using CytoChip (BlueGnome Ltd.) revealed an interstitial microdeletion of chromosome 3q29. This microdeletion is reported in only 7 patients worldwide. The clinical phenotype in the reported cases is variable despite an almost identical deletion size. It includes mild/moderate mental retardation and progressive microcephaly with mildly dysmorphic facial features (long and narrow face, short philtrum and high nasal bridge). The phenotype in our patient is very similar to the other cases, but mitral valve stenosis is not reported in the 7 other patients. However, early death (at 3mo-5y) caused by cardiac events has been reported in some of the other patients with 3q29 microdeletion, and terminal deletions of chromosome 3q are associated with congenital heart defect. The microdeletion encompasses several genes including PAK2. This gene is the autosomal homologue of a known X-linked mental retardation gene (PAK3), and might be the cause of mental retardation in the patients. The specific gene causing the heart defect reported in our patient is unknown. Our patient’s phenotype broadens the clinical spectrum of the 3q29 microdeletion syndrome. P0005. Subtelomeric 6p deletion: clinical and array-CGH findings in two patients I. Filges1 , D. Martinet2 , F. Bena1 , N. Besuchet2 , I. Bouchardy1 , A. C. Gaide2 , S. E. Antonarakis1 , J. Beckmann2 , M. A. Morris1 , A. Bottani1 , M. C. Addor2 ; 1Medical Genetics Service, Geneva University Hospitals, Geneva, Switzerland, 2Medical Genetics Service, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Approximately 30 patients with subtelomeric 6p deletion have been reported. A recognizable phenotype, including hypertelorism, downslanting palpebral fissures, flat nasal bridge and dysplastic ears, has been delineated. In addition to variable mental retardation and potential hearing deficit, there is a distinctive malformation pattern, which comprises anterior eye chamber malformations, posterior fossa/cerebellar anomalies, and heart defects. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bi-
Clinical genetics lateral neurosensory deafness, poor visual contact and hypsarrhythmia from 6 months. Patient 2 is a 5-year-old moderately mentally-retarded boy born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype and bilateral embryotoxon. Routine karyotypes were reported as normal. Subtelomeric MLPA or multi-FISH and parental testing revealed de novo 6pter deletions. Microarray testing (Agilent Human Genome kit 244K) showed that patient 1 has a 7.8 Mb 6pter-6p24.3 deletion and a contiguous 5.5 Mb 6p24.3-6p24.1 duplication. Investigations to explain the origin of the duplicated segment are ongoing. Patient 2 has a 5.7 Mb 6pter-6p25.1 deletion, partially overlapping that of patient 1. Few 6p subtelomeric deletions have been characterized by microarray analysis and at present it is not possible to make accurate conclusions concerning genotype-phenotype correlations. The identification of the contiguous duplication in patient 1 may provide a clue to the mechanism of the deletion. P0006. Molecular analysis of ABCA4 and CRB1 genes in one mixed Spanish family segregating Stargardt disease (STGD) and Leber Congenital Amaurosis (LCA) R. Riveiro-Alvarez1 , E. Vallespin2 , C. Diego2 , A. Jana1 , A. Almudena1 , G. Ascensión1 , T. Mª Jose1 , A. Carmen1 ; 1 2 Fundacion Jimenez Diaz-Capio-CIBER-ER (ISCIII), Madrid, Spain, Fundacion Jimenez Diaz- Capio- CIBER-ER (ISCIII), Madrid, Spain. Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterised by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene. Leber Congenital Amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. LCA has been associated with mutations in ten genes, being CRB1 the most mutated gene in Spanish population. The aim of this study is to describe one mixed pedigree segregating two different retinal dystrophies, STGD and LCA. This family was identified through the course of a conventional mutational screening performed on 223 Spanish families. Mutational analyses were performed by screening on genotyping microarray, dHPLC and direct sequencing. The patient with STGD was homozygous for the p.Asn1805Asp mutation in the ABCA4 gene. Therefore, the involvement of ABCA4 in the etiopathogenesis of the STGD patient was clear but not for the case of LCA. Further analyses showed that the LCA patient was double heterozygous for the p.Cys948Tyr and p.Trp822ter mutations in the CRB1 gene, the second mutation was found in our laboratory. These mutations are consistent with her retinal phenotype. A correct ophthalmologic examination is necessary for providing accurate clinical diagnoses to the patient and therefore an appropriate molecular analysis can be concluded. Therefore, identifying the mutation responsible of the disease is helpful for confirming diagnosis and counselling. Note that in one family different phenotypes and genetic causes can coexist, so it is very important to study all affected members. P0007. A case of achondrogenesis in Kaunas Medical University Hospital L. Kucinskas 1 , D. Serapinas 2 , R. Sereikiene 2 , V. Sarauskas 3 ; 1 Kaunas Medical University Hospital, Kaunas, Lithuania, 2 Kaunas Medical University Hospital Genetic Consultation, Kaunas, Lithuania, 3 Kaunas Medical University Hospital Department of Pathology, Kaunas, Lithuania. Achondrogenesis is a rare disorder subtyped according to radiologic and histopathologic characteristics. The are three subtypes of achondrogenesis: achondrogenesis type 1A , achondrogenesis type 1B and achondrogenesis type 2 .Within the achondrogenesis group, clinical and radiologic distinction between subtypes of achondrogenesis is not always possible. We are presenting a case of achondrogenesis type 2/hypochondrogenesis in Clinics of Kaunas University of Medicine. The diagnosis was confirmed by clinical, radiological and histological data. The patient was born from the first unaffected pregnancy, 36 weeks gestation age. The prenatally preformed ultrasound detected polyhydramnion, regression of normal genesis of sacrococcygea. Newborn was born hypotrophic, with dysplastic signs: large head, flattened face, small narrow eyes openings, short neck and displastic ears. Some skin areas had blisters. After a few day patient dead of pulmonary insufficientia. The radiological data was a marked delay in bone maturation with severe vertebral dysplasia, some metaphyseal involvement, and severe epiphyseal delay. There was no ossification of the pubis or ischiadic bones. The histology shows a conspicuous lack of cartilage matrix with ballooning and vacuolization of chondrocytes. All data indicate that the fetus had achondrogenesis type 2/hypochondrogenesis. The monitoring with ultrasound was decided to perform in case of another pregnancy in this family. P0008. Acro-oto-ocular syndrome: a malformation disorder with psychiatric features C. du Souich 1 , J. Austin 2 , R. Friedlander 2 , C. F. Boerkoel 1 ; 1 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada, 2 Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada. Acro-oto-ocular syndrome (OMIM #264475) is an autosomal recessive disorder characterized by mixed hearing loss, pseudopapilledema, malformation of the face, ears, hands, and feet. We extend the phenotype to include psychiatric symptoms. The propositus was born to consanguineous parents and had minor facial and limb anomalies. His facial features were remarkable for a high prominent forehead with bitemporal narrowing, broad nasal base, malar hypoplasia, and blepharophimosis. His ears, which had thick over-folded helices, were small, posteriorly rotated, and low set. His mouth had a high arched palate with crowded dentition, shallow eruption of the teeth from the gingiva, and abnormally shaped molars. His hands and feet were distinctive. He had unusual palmar creases, marked fifth finger clinodactyly, broad fingertips, mild soft tissue syndactyly of fingers 3 and 4, and mild hypoplasia of the thenar, hypothenar, and inter-digital areas. He had brachydactyly of his toes, increased space between the first and second toes, mild soft tissue syndactyly and camptodactyly of toes 2-5, valgus deviation of the halluces, and bilateral pes planus. Additionally he displayed bilateral gynecomastia, diffuse café-au-lait spots, and ataxia as well as moderate global developmental delay. However, in contrast to previously described individuals, he presented with auditory hallucinations and behavioral problems. Our observations confirm the previous hypothesis that psychiatric features are a component of Acro-oto-ocular syndrome. To better understand the underlying pathophysiology and phenotypic spectrum, we seek other patients with this disorder. P0009. Wide clinical spectrum of Adams Oliver syndrome in a new family S. Sifakis, E. Papadopoulou, P. Vorgia, I. Germanakis, M. Kalmanti; University Hospital of Heraklion, Heraklion, Greece. Introduction: Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by scalp defects and distal transverse limb reduction anomalies. Case presentation: a 14 month-old boy, the 2 nd child of phenotypically normal parents, who was born at 36 weeks’ gestation, SGA. Current clinical examination shows growth retardation and central hypotonia. The patient presents an area 2x4cm of hairless atrophic skin, large anterior fontanel, nail dystrophy of hands and feet, camptodactyly of the right thumb and 3 rd finger, and left inguinal hernia. X-rays show a variety of hypoplasia or aplasia in different phalanges in thumbs and in fingers of the hands and feet. Cardiac sonogram reveals a wide atrial septal defect. Brain MRI shows bilateral asymmetrical dilatation of lateral ventricles, periventricular leukomalacia, and hypoplasia of corpus callosum. The karyotype is normal. The father has a hairless scar over his posterior scalp. Father’s father presented cutis aplasia and nail dystrophy. Discussion: Variable clinical expression of the AOS syndrome has been reported in the literature. In our patient the combination of aplasia cutis congenita, distal limb anomalies and transverse dystrophy of the nails indicated the diagnosis of AOS. A vertical transmission is recognized in this new AOS family, which is consistent with autosomal dominant inheritance. Our patient presents cardiac defects, which are present in approximately 20% of cases. Some affected children have intracranial anomalies including hypoplasia of corpus callosum, or periventicullar leucomalacia, such as in our patient. This may be the result of abnormal small vessel structures manifesting in embryogenesis.
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Page 5 and 6: Plenary Lectures Plenary Lectures P
Page 7 and 8: Plenary Lectures labile iron can be
Page 9 and 10: Concurrent Symposia S07. Vertebrate
Page 11 and 12: Concurrent Symposia S17. Towards a
Page 13 and 14: Concurrent Symposia 11 at E13.5 sim
Page 15 and 16: Concurrent Symposia 1 phomagenesis.
Page 17 and 18: cover cryptic mutations in Drosophi
Page 19 and 20: Concurrent Sessions first excluded
Page 21 and 22: Concurrent Sessions of 210 ancestry
Page 23 and 24: Concurrent Sessions C23. Literature
Page 25 and 26: Concurrent Sessions a boy with a ty
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Page 31 and 32: Concurrent Sessions C57. RNAi-based
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Page 41 and 42: Clinical genetics apparently sporad
Page 43 and 44: Clinical genetics itar syndrome, wh
Page 45 and 46: Clinical genetics diseases, Foundat
Page 47 and 48: Clinical genetics P0041. The first
Page 49 and 50: Clinical genetics EFNB1 was found t
Page 51 and 52: Clinical genetics of the CSB gene.
Page 53 and 54: Clinical genetics growth retardatio
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Page 57 and 58: Clinical genetics pound heterozygou
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Page 67 and 68: Clinical genetics P0133. Hidrotic e
Page 69 and 70: Clinical genetics eight patients as
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Therapy for genetic disease Po10. T
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Therapy for genetic disease P1405.
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Therapy for genetic disease exon 7
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Author Index 1 Arslan-Krichner, M.:
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Author Index Borkowska, A.: P1089 B
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Author Index Coviello, D.: P0078, P
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Author Index Estivill, X.: P1216, P
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Author Index Graf, S. A.: P0021 Gra
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Author Index 1 Josifiova, D.: PL07
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Author Index Laurier, V.: C03 Lauri
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Author Index Melo, D. G.: P0260, P0
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Author Index Osorio, P.: P0218 Osta
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Author Index Reese, T.: C06 Regal,
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Author Index 1 Shaposhnikov, S.: P0
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Author Index Touitou, I.: P0733 Tou
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Author Index Xiao, C.: P1241 Xie, G
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Keyword Index ARMR: P0907 array CGH
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Keyword Index Consanguineous marria
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Keyword Index 1 Fronto-temporal dem
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Keyword Index IRF5: P1086 IRF6: P07
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Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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