Article
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.
American journal of medical genetics - 2 Jul 1999
Bellus G A, Bamshad M J, Przylepa K A, Dorst J, Lee R R, Hurko O, Jabs E W, Curry C J, Wilcox W R, Lachman R S, Rimoin D L, Francomano C A
Abstract excerpt
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina et al., 1999: Am. J. Hum. Genet. 64:722-731]. Here we present a more detailed clinical account of the SADDAN...
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