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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Bibliografische gegevens
Gepubliceerd in:Genet Mol Biol
Hoofdauteurs: Kanazawa, Thatiane Yoshie, Bonadia, Luciana Cardoso, Cavalcanti, Denise Pontes
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Sociedade Brasileira de Genética 2014
Onderwerpen:
Human and Medical Genetics
Online toegang: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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