2009 Vienna - European Society of Human Genetics

More documents

Recommendations

Info

Complex traits and polygenic disorders Results: Significant association between analyzed IRF6 gene SNPs was found in different study groups. In patients with CLP/CL four of seven SNPs showed significant association with P value < 0.05. CP patient group showed the stongest association with two SNPs (rs658860, rs642961), P value < 0.001. Conclusion: Obtained results showed IRF6 gene as important contributing factor in CP etiology with some impact on CLP/CL patients what allow us to hypothesize that IRF6 gene possibly is one of the major gene in the development of isolated cleft palate. P09.028 Cleft palate caused by 12q24.33 amplification L. Desmyter 1 , A. Ghalamkarpour 1 , M. Ghassibe 1 , H. Antoine-Poirel 2 , C. Labrèze 3 , F. Morice-Picard 4 , M. Vikkula 1 ; 1 Laboratory of Human Molecular Genetics, de Duve Institute, Brussels, Belgium, 2 Centre de Génétique Médicale - Secteur Hématologique, Cliniques universitaires Saint-Luc, Brussels, Belgium, 3 Unité Dermatologie Pédiatrique, Hôpital Pellegrin Enfants, Bordeaux, France, 4 Unité de Génétique Médicale, CHU Bordeaux, Bordeaux, France. Orofacial clefts are the most frequent craniofacial malformations in humans. Occurrence estimates range between 1/500 and 1/2500 births for cleft lip with or without palate (CL/P) and around 1/2000 births for cleft palate only (CPO). The majority of clefts are isolated, nonsyndromic. The remaining syndromic cases are subdivided into categories on the basis of chromosomal abnormalities, Mendelian single gene syndromes, teratogenic effects and of unknown cause. We performed chromosomal and molecular karyotyping using Affymetrix GeneChip SNP chips on a total of 200 individuals with CL/P or CPO. In one female patient we observed a 3Mb duplication encompassing the region 12q24.3-qter and a 1Mb deletion of the telomeric part of the 22q13.3 region. The girl was the only affected member of the family and presented congenital progressive lymphedema, hypotonia, mental retardation, facial dysmorphism and CPO indicative of a 22q13 deletion syndrome, also known as the Phelan-McDermid syndrome. Interestingly she had CPO, a feature not linked to this well characterized syndrome. We hypothesize that the presence of CP is due to the trisomy 12qter. This locus has not been incriminated in CL/P nor CPO before. This study shows that molecular cytogenetics is a valuable tool for the identification of new genes related to complex diseases. P09.029 FAF1 is Associated with cleft Palate and Pierre Robin sequence M. Ghassibe1 , L. Desmyter1 , B. Bayet2 , N. Revencu1 , R. Vanwijck2 , M. Vikkula1 ; 1 2 de Duve Institute, Brussels, Belgium, Centre Labiopalatin, Cliniques universitaires St Luc, Brussels, Belgium. Nonsyndromic clefts occur in a wide geographic distribution with an average prevalence of 1/700. Genetic factors involved in cleft lip and palate (CL/P) are thought to be different from those having a role in cleft palate only (CPO). We have recently reported FAF1 as a new gene responsible for CPO and Pierre Robin sequence (PRS). Moreover, we showed that Faf1 is needed for craniofacial development in human, mouse and zebrafish. In order to replicate our positive association study, we conducted TDTs in an independent series of 160 European families with CL/P. The same FAF1 variant as in our first study was genotyped. In the replication, FAF1 showed positive tendency for association only in the CPO/ PRS subgroup (p=0.09). Pooling together our 500 patients reinforced the earlier association, giving a more stringent p-value of 0.001 for the CPO/PRS subgroup. In order to identify other genes contributing to the occurrence of this multifactorial condition, we are testing in parallel association of IRF6 and SATB2, two cleft genes, to the cleft condition in our 500-patient cohort. Preliminary results suggest that, contrary to FAF1, IRF6 predisposes to CL/P, but not to CPO. This illustrates the benefit of testing greater number of patients in complex diseases in order to well delineate the true predisposed subgroups. Moreover, it confirms that FAF1 and IRF6 play a role in the occurrence of isolated complex clefts, but most likely in distinct pathways. P09.030 Large cNVs are involved in the pathogenesis of schizophrenia G. Kirov, D. Grozeva, N. Norton, D. Ivanov, K. Mantripragada, P. Holmans, N. Craddock, M. Owen, M. O’Donovan; Cardiff University, Cardiff, United Kingdom. We investigated the involvement of rare (< 1%) CNVs in 471 cases of schizophrenia recruited in the UK, and 2792 controls from the UK, used by the Wellcome Trust Case Control Consortium. All samples had been genotyped with the Affymetrix GeneChip 500K Mapping Array. We accepted only CNVs >100kb identified independently on both arrays (Nsp and Sty), with at least 10 SNPs each. Large CNVs >1Mb were 2.26 times more common in cases (p=0.00027), with the effect coming mostly from deletions (OR=4.53, p=0.00013) although duplications were also more common (OR=1.71, p=0.04). Two large deletions were found in two cases each, but in no controls (Fisher Exact Test p=0.02): a deletion at 22q11.2 known to be a susceptibility factor for schizophrenia, and a deletion on 17p12, at 14,0-15,4Mb. The latter is known to cause hereditary neuropathy with liability to pressure palsies (HNPP). Another large deletion affects neurexophilin (NXPH2), a gene that interacts with neurexins. NRXN1 was also disrupted by deletions in one case and three controls (0.2% vs 0.1%, p=0.5). One large duplication on 16p13.1, between 15,0 and 16,2Mb, was found in three cases and six controls (0.6% vs 0.2%, p=0.13). It has been previously implicated as a susceptibility factor for autism by Ullmann et al (2008). The largest duplication, of 5Mb, was in a schizoaffective case and involved the Prader-Willi/Angelman Syndrome critical region, and is a known susceptibility factor for autism. This study confirms the involvement of rare and large CNVs in the pathogenesis of schizophrenia. P09.031 No association of polymorphisms within the cD44 gene and the coeliac condition C. Vidal1,2 , A. Xuereb-Anastasi1 , C. A. Scerri3 ; 1 2 Institute of Healthcare, Msida, Malta, Department of Pathology, Msida, Malta, 3Department of Physiology and Biochemistry, Msida, Malta. Coeliac disease is a complex disorder characterised by inflammation, villous atrophy and hyperplasia of the intestinal mucosa in genetically susceptible individuals, upon exposure to dietary gluten. Sequencing of the CD44 gene at locus 11p13-12, revealed a number of sequence variants, one of whom (rs1071695) was linked with an inherited haplotype identified in a previous linkage study. Three single nucleotide polymorphisms (rs1071695, rs3736812, rs1467558) within the CD44 gene were tested by restriction fragment length polymorphism in a group of coeliac individuals (n=92) and controls (n=248). The mean age at diagnosis for the coeliac group was 34 years, with the predominant presenting symptoms being gastrointestinal. Genotype frequencies observed for all three polymorphisms studied were in Hardy-Weinberg equilibrium (p>0.05). When testing for linkage disequilibrium (LD) between polymorphisms within the control group the rs1071695 variant in exon 3 was in LD with rs3736812 in exon 4 (p=0.004) but not with rs1467558 in exon 11. The latter, was in LD with rs3736812 (p=0.003). In the celiac group, LD was only observed between rs3736812 and rs1467558 (p=0.036; Fisher’s exact test). No significant association of individual polymorphisms or combined genotypes was observed with the coeliac condition in the studied population. Also no significant association was observed between constructed haplotypes and the coeliac condition (χ2=4.56; p=0.713; df=7). No association with coeliac was observed between any of the studied SNPs, including the linked variant identified by linkage, in this population based study. P09.032 Novel insights into pathogenesis of coeliac disease: a second genome-wide association study G. Trynka 1 , P. C. Dubois 2 , J. Romanos 1 , L. Franke 1 , A. Zhernakova 3 , V. M. Wolters 4 , G. A. Heap 5 , K. A. Hunt 5 , R. J. Houwen 4 , C. J. Mulder 6 , R. Gwilliam 7 , P. Saavalainen 8 , D. Barisani 9 , M. T. Bardella 10 , P. Deloukas 7 , R. McManus 11 , D. A. Van Heel 5 , C. Wijmenga 1,3 ; 1 Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands, 2 Institute of Cell and Molecular Science,Barts and The London School of Medicine and Dentistry, London, United Kingdom, 3 Depart-
Complex traits and polygenic disorders ment of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands, 4 Department of Paediatric Gastroenterology, University Medical Centre Utrecht, Utrecht, The Netherlands, 5 Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, United Kingdom, 6 Department of Gastroenterology, VU Medical Centre, Amsterdam, The Netherlands, 7 Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom, 8 Department of Medical Genetics, and Research Program of Molecular Medicine, University of Helsinki, Helsinki, Finland, 9 Department of Experimental Medicine, University of Milano Bicocca, Monza, Italy, 10 Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy, 11 Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland. Coeliac disease (CD) is a common, complex trait with high heritability and strong association to the HLA locus. In the first genome-wide association study (GWAS) we found 10 new loci and pointed to the altered innate and adaptive immunity pathways in CD. There is a remarkable overlap between these loci and those known to be involved in other inflammatory disorders. We aimed to expand the number of samples and single nucleotide polymorphisms (SNPs) tested in this GWAS. We expanded our cohort to 4,200 cases and 10,500 controls, originating from four European populations and genotyped for the Illumina 550K tag SNP set. We are currently integrating the data and performing a meta-analysis. Validation of the most significant SNPs will be carried out in CD and in samples from patients with inflammatory bowel disease, multiple sclerosis and rheumatoid arthritis. We also extend the analysis of genetic variation from SNPs to common copy number variants (CNVs). We used custom, high-density Illumina Human-670 Quad Genotyping BeadChips, enriched for a novel set of 120,000 CNV probes capturing 5,000 common heritable CNVs. We are now applying different CNV algorithms, including TriTyper and PennCNV. GWA studies in other autoimmune diseases (e.g. type 1 diabetes, Crohn’s disease) have shown that enlarging the sample size enabled many more risk variants to be identified. We expect to double the number of genetic variants and gain novel biological insights into the pathogenesis of CD by discovering further SNP risk variants and, for the first time, performing CNV analysis in coeliac disease. P09.033 several genes on chromosome 4q27 are involved in coeliac Disease susceptibility H. Perdry 1,2 , M. P. Sperandeo 3 , G. Turner 4 , M. C. Babron 2,1 , A. W. Ryan 4 , R. McManus 4 , F. Clerget-Darpoux 2,1 , L. Greco 3 ; 1 Univ. Paris-Sud, Villejuif, France, 2 INSERM UMR 535, Villejuif, France, 3 University of Naples Federico II, Naples, Italy, 4 Trinity College Dublin, Dublin, Ireland. Association between Coeliac Disease (CD) and SNPs in the 4q27 region, containing the KIAA1109, TENR, IL2 and IL21 genes was detected in British coeliac cases and controls and confirmed in Dutch and Irish collections [van Heel et al. 2007]. To better understand how this region is involved in susceptibility to CD, five SNPs were studied in Italian 407 CD cases and 406 controls. The Combination Test [Jannot et al, 2003] was applied to select the subset of SNPs showing the most significant difference in the genotypic distribution between patients and controls. The best discrimination is obtained though the joint information of 3 SNPs, one located in KIAA1109, the other two on each side of IL21. The range of the relative risks of the 3-SNP genotypes is very impressive, one genotype conferring 9 times more risk than the least at-risk. Our result strongly suggests that several genes in 4q27 are involved in CD susceptibility. The probable role of KIAA1109 and IL21 is also supported by expression studies showing a difference of mRNA levels between CD cases and controls for these two genes. The importance of the 4q27 region in auto-immunity is well established. The difficulty of identifying causal genotypic variations is illustrated by the problems encountered in disentangling the HLA component of most auto-immune diseases. The modelling of the 4q27 region is likely to also be a long quest, not to mention the added complexity of uncovering its interaction with other genes involved in the pathological pathway(s). P09.034 sp1-binding site polymorphism of cOL1A1 gene, juvenile idiopathic arthritis course and bone metabolism M. V. Moskalenko 1 , M. M. Kostik 2 , G. S. Demin 1 , M. N. Ostroumova 3 , M. M. Mnuskina 3 , L. A. Scheplyagina 4 , V. I. Larionova 2 ; 1 Gene, Ltd., Saint-Petersburg, Russian Federation, 2 Saint-Petersburg State Pediatric Medical Academy, Saint-Petersburg, Russian Federation, 3 City’s Diagnostic Center for Adults N1, Saint-Petersburg, Russian Federation, 4 Scientific and Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation. Objectives: To detect an association between the alpha 1 chain of collagen type 1 (COL1A1) gene Sp1-binding site polymorphism and juvenile idiopathic arthritis (JIA) course and bone mineralization in JIA patients. Study Population: 192 children with JIA (81 boys and 111 girls). The average age was 11.22±4.43 years. Methods: In all children we checked more than 20 clinical and laboratorial arthritis activity parameters, such as the time of visual activity score (VAS), Ritchie arthicular index (RAI), DAS, DAS28, Shteinbroker index, platelets and leucocytes count, erythrocyte sedimentation rate (ESR). Bone mineralization of lumbar spine (L1-L4) was assessed by dualenergy X-ray absorbtiometry with pediatric referral database. About 10 bone metabolic markers, such as total Ca, Ca/P and Ca++/P ratios, total alkaline phosphatase, osteocalcine, C-terminal telopeptides and parathyroid hormone also were determined. Molecular testing of Sp1 COL1A1 polymorphism (rs1800012, +2046G>T) was carried out by polymerase chain reaction followed by Bse1I enzymatic restriction. Results: We did not reveal any differences in polymorphic Sp1 alleles and genotypes distribution between children with normal and low BMD. Girls with GG genotype of Sp1 COL1A1 polymorphism had lower ESR (p=0.01), platelets (p=0.03), higher Hb (pT) was carried out by polymerase chain reaction followed by PsyI enzymatic restriction. Results: We did not reveal any differences in polymorphic PCOL2 alleles and genotypes distribution between children with normal and low BMD. Girls with GG genotype of the PCOL2 COL1A1 polymorphism had lower Ca/P (p
Page 1 and 2:
Volume 17 Supplement 2 May 2009 www
Page 3 and 4:
European Society of Human Genetics
Page 5 and 6:
Table of Contents spoken Presentati
Page 7 and 8:
Plenary Lectures PL2.2 massive para
Page 9 and 10:
Concurrent Symposia s01.1 Genome va
Page 11 and 12:
Concurrent Symposia Monogenic diabe
Page 13 and 14:
Concurrent Symposia invariable in t
Page 15 and 16:
Concurrent Symposia s11.2 clinical,
Page 17 and 18:
Concurrent Symposia s13.2 A novel g
Page 19 and 20:
Concurrent Sessions c01.1 mRNA-seq
Page 21 and 22:
Concurrent Sessions velopmental del
Page 23 and 24:
Concurrent Sessions development of
Page 25 and 26:
Concurrent Sessions c04.6 Duplicati
Page 27 and 28:
Concurrent Sessions genes to be rec
Page 29 and 30:
Concurrent Sessions c07.5 Prenatal
Page 31 and 32:
Concurrent Sessions with familial h
Page 33 and 34:
Concurrent Sessions University of W
Page 35 and 36:
Concurrent Sessions with this, we f
Page 37 and 38:
Concurrent Sessions had immotile ci
Page 39 and 40:
Concurrent Sessions abnormal glycos
Page 41 and 42:
Concurrent Sessions showers’ and
Page 43 and 44:
Concurrent Sessions partial gene de
Page 45 and 46:
Concurrent Sessions leads to distre
Page 47 and 48:
Genetic counseling Genetics educati
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Clinical genetics and Dysmorphology
Page 61 and 62:
Page 63 and 64:
Page 65 and 66:
Page 67 and 68:
Page 69 and 70:
Page 71 and 72:
Page 73 and 74:
Page 75 and 76:
Page 77 and 78:
Page 79 and 80:
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Cytogenetics P03. cytogenetics Recu
Page 107 and 108:
Cytogenetics use of metaphase analy
Page 109 and 110:
Cytogenetics 2: mother’s age < fa
Page 111 and 112:
Cytogenetics P03.028 HLA B27 allele
Page 113 and 114:
Cytogenetics karyotype revealed a p
Page 115 and 116:
Cytogenetics drome is estimated at
Page 117 and 118:
Cytogenetics P03.057 Pathological c
Page 119 and 120:
Cytogenetics grandmother and 2 mate
Page 121 and 122:
Cytogenetics method used to detect
Page 123 and 124:
Cytogenetics P03.082 High-resolutio
Page 125 and 126:
Cytogenetics All detected anomalies
Page 127 and 128:
Cytogenetics somy for chromosome 2.
Page 129 and 130:
Cytogenetics cially in chromosome 4
Page 131 and 132:
Cytogenetics (59.390.122 to 62.021.
Page 133 and 134:
Cytogenetics For further characteri
Page 135 and 136:
Cytogenetics 9p duplication. This c
Page 137 and 138:
Cytogenetics regions with mental /d
Page 139 and 140:
Cytogenetics donation program of po
Page 141 and 142:
Cytogenetics P03.165 interpretation
Page 143 and 144:
Cytogenetics P03.174 Deletion of th
Page 145 and 146:
Cytogenetics P03.183 An atypical 7q
Page 147 and 148:
Cytogenetics spermia, 11 oligosperm
Page 149 and 150:
Reproductive genetics and social fa
Page 151 and 152:
Reproductive genetics mosomal chang
Page 153 and 154:
Reproductive genetics two cohorts w
Page 155 and 156:
Reproductive genetics the 147 SC ch
Page 157 and 158:
Prenatal and perinatal genetics P05
Page 159 and 160:
Prenatal and perinatal genetics and
Page 161 and 162:
Prenatal and perinatal genetics fro
Page 163 and 164:
Prenatal and perinatal genetics dev
Page 165 and 166:
Prenatal and perinatal genetics in
Page 167 and 168:
Prenatal and perinatal genetics obj
Page 169 and 170:
Prenatal and perinatal genetics P05
Page 171 and 172:
Cancer genetics P06.005 tiling reso
Page 173 and 174:
Cancer genetics tient group in whic
Page 175 and 176:
Cancer genetics chronic inflammatio
Page 177 and 178:
Cancer genetics licular thyroid can
Page 179 and 180:
Cancer genetics also studied. In 31
Page 181 and 182:
Cancer genetics tile polyposis. We
Page 183 and 184:
Cancer genetics Upon recombinant ex
Page 185 and 186:
Cancer genetics variant allele was
Page 187 and 188:
Cancer genetics from patients with
Page 189 and 190:
Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208: Cancer genetics screening was perfo
Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
Page 213 and 214: Cancer genetics on chromosome regio
Page 215 and 216: Cancer genetics preferentially dupl
Page 217 and 218: Cancer cytogenetics mutations in co
Page 219 and 220: Cancer cytogenetics P07.08 molecula
Page 221 and 222: Statistical genetics, includes Mapp
Page 235 and 236: Complex traits and polygenic disord
Page 241: Complex traits and polygenic disord
Page 267 and 268: Evolutionary and population genetic
Page 285 and 286: Genomics, Genomic technology and Ep
Page 293 and 294:
Genomics, Genomic technology and Ep
Page 295 and 296:
Page 297 and 298:
Page 299 and 300:
Page 301 and 302:
Page 303 and 304:
Page 305 and 306:
Page 307 and 308:
Page 309 and 310:
Page 311 and 312:
Page 313 and 314:
Molecular basis of Mendelian disord
Page 315 and 316:
Page 317 and 318:
Page 319 and 320:
Page 321 and 322:
Page 323 and 324:
Page 325 and 326:
Page 327 and 328:
Page 329 and 330:
Page 331 and 332:
Page 333 and 334:
Page 335 and 336:
Page 337 and 338:
Page 339 and 340:
Page 341 and 342:
Page 343 and 344:
Page 345 and 346:
Page 347 and 348:
Page 349 and 350:
Page 351 and 352:
Metabolic disorders P12.167 Pattern
Page 353 and 354:
Metabolic disorders PKU. BH4 challe
Page 355 and 356:
Metabolic disorders catepe Universi
Page 357 and 358:
Metabolic disorders respectively. G
Page 359 and 360:
Metabolic disorders enzymaticaly co
Page 361 and 362:
Metabolic disorders Normal Affected
Page 363 and 364:
Therapy for genetic disorders in th
Page 365 and 366:
Therapy for genetic disorders P14.0
Page 367 and 368:
Therapy for genetic disorders of me
Page 369 and 370:
Laboratory and quality management P
Page 371 and 372:
Laboratory and quality management T
Page 373 and 374:
Molecular and biochemical basis of
Page 375 and 376:
Page 377 and 378:
Page 379 and 380:
Page 381 and 382:
Page 383 and 384:
Page 385 and 386:
Genetic analysis, linkage ans assoc
Page 387 and 388:
Page 389 and 390:
Page 391 and 392:
Page 393 and 394:
Page 395 and 396:
Page 397 and 398:
Page 399 and 400:
Page 401 and 402:
Page 403 and 404:
Author Index Allanson, J.: P02.140
Page 405 and 406:
Author Index 0 Barbacioru, C.: C01.
Page 407 and 408:
Author Index 0 Bonneau, D.: C16.2,
Page 409 and 410:
Author Index 0 Chakravarti, A.: C13
Page 411 and 412:
Author Index 0 Dan, D.: P01.39, P14
Page 413 and 414:
Author Index 0 Duskova, J.: P06.012
Page 415 and 416:
Author Index Franke, A.: P09.056 Fr
Page 417 and 418:
Author Index Grasso, R.: P02.025 Gr
Page 419 and 420:
Author Index Holder-Espinasse, M.:
Page 421 and 422:
Author Index Jurkiewicz, E.: C14.5
Page 423 and 424:
Author Index Kooper, A. J. A.: P05.
Page 425 and 426:
Author Index Li, K. J.: P11.086 Li,
Page 427 and 428:
Author Index Martinet, D.: P03.095
Page 429 and 430:
Author Index Moorman, A. F. M.: P16
Page 431 and 432:
Author Index P10.57, P10.82 Oguzkan
Page 433 and 434:
Author Index P09.054, P09.085, P09.
Page 435 and 436:
Author Index P16.01 Renieri, A.: P0
Page 437 and 438:
Author Index Santorelli, F.: P08.55
Page 439 and 440:
Author Index Sinke, R. J.: P02.020
Page 441 and 442:
Author Index Taheri, M.: P04.33, P0
Page 443 and 444:
Author Index Valentino, P.: P02.064
Page 445 and 446:
Author Index Wiemer-Kruel, A.: P14.
Page 447 and 448:
Keyword Index 1 10q22 deletions: P0
Page 449 and 450:
Keyword Index autosomal dominant re
Page 451 and 452:
Keyword Index CLA: P06.073 CLCN1 ge
Page 453 and 454:
Keyword Index DMD: P16.40, P16.41,
Page 455 and 456:
Keyword Index gene networks: S12.2
Page 457 and 458:
Keyword Index hydrocephaly: P05.11
Page 459 and 460:
Keyword Index malignant hyperthermi
Page 461 and 462:
Keyword Index NAT2: P12.118 natridi
Page 463 and 464:
Keyword Index Polymalformations: P0
Page 465 and 466:
Keyword Index Sardinia: C09.6 Sardi
Page 467 and 468:
Keyword Index TNFalpha: P08.61, P09
Page 469:
ican
show all

2009 Vienna - European Society of Human Genetics

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?