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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
Date Issue: 2018
Appears in Collections:FCM - Artigos e Outros Documentos

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