Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

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 phenotypes. Mutation hotspots of the FGFR3 ge...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Gomes, Maria E.S., Kanazawa, Thatiane Y., Riba, Fernanda R., Pereira, Natálya G., Zuma, Maria C.C., Rabelo, Natana C., Sanseverino, Maria T., Horovitz, Dafne D.G., Llerena Jr., Juan C., Cavalcanti, Denise P., Gonzalez, Sayonara
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836216/
https://ncbi.nlm.nih.gov/pubmed/29593476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000486697
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