Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes

Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ∼70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype...

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Bibliographic Details
Published in:Genet Mol Biol
Main Authors: Kanazawa, Thatiane Yoshie, Bonadia, Luciana Cardoso, Cavalcanti, Denise Pontes
Format: Artigo
Language:Inglês
Published: Sociedade Brasileira de Genética 2014
Subjects:
Human and Medical Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4261960/
https://ncbi.nlm.nih.gov/pubmed/25505835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572014005000014
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