title: Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Masaki
authors: M
authors: Takagi
authors: Saori
authors: S
authors: Kaneko-Schmitt
authors: Nobuhiro
authors: N
authors: Suzumori
authors: Gen
authors: G
authors: Nishimura
authors: Tomonobu
authors: T
authors: Hasegawa
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3