Revista HUGV 2011 n.1 - Hospital Universitário Getúlio Vargas - Ufam

DISPLASIA TANAFÓRICA: RELATO DE CASOMacMurray, SB. Growth and development inthanatophoric dysplasia. Am J Med Genet.,1989; 33:508-12.9. Karczeski, B; Cutting GR. US Library ofMedicine – Gene Reviews Bookshelf ID: NBK1366PMID: 20301540. EUA: Department of Healthand Human Services: National Institutes ofHealth; c2004 [atualizado 2008; citado 2011January 10]. [13 telas]. Disponível em: http://www.ncbi.nlm.nih.gov/books/NBK1366/10. US Library of Medicine – GeneticsHome Reference. [Homepage on the] EUA:Department of Health and Human Services:National Institutes of Health; c2011[atualizado2006; citado 2011 January 10]. [4 telas].Disponível em: http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia11. Wilcox, WR; Tavormina, PL; Krakow, D;Kitoh, H; Lachman, RS; Wasmuth, JJ; Thompson,LM; Rimoin, DL. Molecular, radiologic, andhistopathologic correlations in thanatophoricdysplasia. Am J Med Genet., 1998; 78:274-81.12. Ortolan, D. Estudo de Genética Molecularem Osteocondrodisplasias e CraniossinostosesSindrômicas com Mutações no Gene FGFR3 noLaboratório de Genética Humana e Médicada Faculdade de Medicina de Ribeirão Preto.(Tese). São Paulo: Faculdade de Medicina deRibeirão Preto, 2006.13. Baitner, AC; Maurer, SG; Gruen, MB;Di Cesare, PE. The genetic basis of theosteochondrodysplasias. J Pediatr Orthop.,2000; 20:594-605.14. Sawai, H; Komori, S; Ida, A; Henmi, T;Bessho, T; Koyama, K. Prenatal diagnosis ofthanatophoric dysplasia by mutational analysisof the fibroblast growth factor receptor 3gene and a proposed correction of previouslypublished PCR results. Prenat Diagn., 1999;19:21-4.15. Chen, CP; Chern, SR; Shih, JC; Wang,W; Yeh, LF; Chang, TY; Tzen, CY. Prenataldiagnosis and genetic analysis of type I andtype II thanatophoric dysplasia. Prenat Diagn.,2001; 21:89-95.16. Lievens, PM; Liboi, E. The thanatophoricdysplasia type II mutation hampers completematuration of fibroblast growth factor receptor3 (FGFR3), which activates signal transducerand activator of transcription 1 (Stat1) fromthe endoplasmic reticulum. J Biol Chem.,2003; 278:17.344-9.17. Utagawa, CY; Diniz, EMA; Ceccon, ESN;Lefort, S; Anaisse, MW; Vaz, FAC. Relato deCaso: Displasia Tanatofórica. Pediatria (SãoPaulo). 1996: 18(3):152-154.18. Ribeiro, EM. Relato de Caso: DisplasiaTanatofórica. Pediatria (São Paulo). 2004:26(2):120-123.19. Noronha, L; Prevedello, LMS; Maggio,EM; Serapião, MJ; Torres, LFB. Relato de doiscasos com estudo neuropatológico: DisplasiaTanatofórica. Arq. Neuropsiquiatr., 2004:60(1):133-137.84revistahugv - Revista do Hospital Universitário Getúlio Vargasv.10. n. 1-2 jan./jul. – 2011