%0 Journal Article
%T A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0001-2
%X 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 infant with HCH through direct sequencing of all FGFR3 exons and exon/intron boundaries. This mutation creates an additional cysteine residue in the extracellular region of FGFR3 that results in the functional activation of FGFR3
%U https://www.nature.com/articles/s41439-018-0001-2