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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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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2018
Matèries:
Accés en línia: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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