Novel and recurrent mutations in the FGFR3 gene and double heterozygosity cases in a cohort of brazilian patients with skeletal dysplasia

Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/353624

Type:	Artigo
Title:	Novel and recurrent mutations in the FGFR3 gene and double heterozygosity cases in a cohort of brazilian patients with skeletal dysplasia
Author:	Gomes, M.E.S. Kanazawa, T.Y. Riba, F.R. Pereira, N.G. Zuma, M.C.C. Rabelo, N.C. Sanseverino, M.T. Horovitz, D.D.G. Llerena Junior, J.C. Cavalcanti, D.P. Gonzalez S.
Abstract:	Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these
Subject:	Acondroplasia
Country:	Suíça
Editor:	Karger
Rights:	Fechado
Identifier DOI:	10.1159/000486697
Address:	https://www.karger.com/Article/FullText/486697
Date Issue:	2018
Appears in Collections:	FCM - Artigos e Outros Documentos

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