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- W2016707390 abstract "American Journal of Medical Genetics Part AVolume 130A, Issue 4 p. 437-438 Research Letter Blepharo–cheilo–dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes Ciro Dresch Martinhago, Corresponding Author Ciro Dresch Martinhago [email protected] Serviçio de Genética Médica, HCFMRP-USP, Ribeirão Preto, São Paulo, BrazilServiçio de Genética Médica, HCFMRP—USP, Av. Caramuru, 2100 ap 101, Ribeirão Preto, São Paulo, 14030-000 Brazil.Search for more papers by this authorEster Silveira Ramos, Ester Silveira Ramos Departamento de Genética da Faculdade de Medicina de Ribeirão Preto, São Paulo, BrazilSearch for more papers by this author Ciro Dresch Martinhago, Corresponding Author Ciro Dresch Martinhago [email protected] Serviçio de Genética Médica, HCFMRP-USP, Ribeirão Preto, São Paulo, BrazilServiçio de Genética Médica, HCFMRP—USP, Av. Caramuru, 2100 ap 101, Ribeirão Preto, São Paulo, 14030-000 Brazil.Search for more papers by this authorEster Silveira Ramos, Ester Silveira Ramos Departamento de Genética da Faculdade de Medicina de Ribeirão Preto, São Paulo, BrazilSearch for more papers by this author First published: 07 September 2004 https://doi.org/10.1002/ajmg.a.30285Citations: 6Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK. 1998 Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate, and choanal atresia. Nat Genet 19: 399– 401. Gillam MP, Kopp P. 2001. Genetic regulation of thyroid development. Curr Opin Pediatr 13: 358– 363. Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. 1996. Blepharo–cheilo–dontic (BCD) syndrome. Am J Med Genet 65: 109– 112. Guion-Almeida ML, Rodini ESO, Kokitsu-Nakata NM, Bologna-Amantini D. 1998. Blepharo–cheilo–dontic (BCD) syndrome: Report on four new patients. Am J Med Genet 76: 133– 136. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, Mcdonald-McGinn DM, Zackai EH, Edward JL, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 gene cause van der Woude and politeal pterygium syndromes (letter). Nat Genet 32: 285– 289. La Franchi SH, Hanna CE, Krainz PL, Skeels MR, Miyahara RS, Sesser DE. 1985. Screening for congenital hypothyroidism with specimen collection at two time periods: Results of the Northwest Regional Screening Program. Pediatrics 76: 734. Martínez BR, Monasterio LA, Pinheiro M, Freire-Maia N. 1987. Cleft lip/palate oligodontia-syndactyly-hair alterations, a new syndrome: Review of the conditions combining ectodermal dysplasia and cleft lip/palate. Am J Med Genet 27: 23– 31. Silva Lopes VLG, Guion-Almeida ML, Oliveira Rodini ESO. 2003. Blepharocheilodontic (BCD) syndrome: Expanding the phenotype? Am J Med Genet 121: 266– 270. Valdéz-de la Torre MH, Quintana-García M, Canún S. 1999. Blepharo–cheilo–dontic (BCD) syndrome in two Mexican patients. Am J Med Genet 85: 157– 159. Citing Literature Volume130A, Issue41 November 2004Pages 437-438 ReferencesRelatedInformation" @default.
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