Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review

RATIONALE: Hypochondroplasia (HCH) is the mildest form of chondrodysplasia characterized by disproportionate short stature, short extremities, and variable lumbar lordosis. It is caused by mutations in fibroblast growth factor receptor 3 (FGFR3) gene. Up to date, at least thirty mutations of FGFR3 g...

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Detalles Bibliográficos
Autores principales: Yao, Guixiang, Wang, Guangxin, Wang, Dawei, Su, Guohai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358355/
https://www.ncbi.nlm.nih.gov/pubmed/30681580
http://dx.doi.org/10.1097/MD.0000000000014157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358355/
https://www.ncbi.nlm.nih.gov/pubmed/30681580
http://dx.doi.org/10.1097/MD.0000000000014157

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