Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

Severe achondroplasia with developmental

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

✍ Bellus, Gary A.; Bamshad, Michael J.; Przylepa, Kelly A.; Dorst, John; Lee, Rola 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

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