SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3).
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA
タイトル
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T
タイトル
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
