A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese...

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Detalles Bibliográficos
Autores principales: Takahashi, Ikuko, Kondo, Daiki, Oyama, Chikako, Yano, Tamami, Tamura, Hiroaki, Noguchi, Atsuko, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933720/
https://www.ncbi.nlm.nih.gov/pubmed/29736252
http://dx.doi.org/10.1038/s41439-018-0001-2

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