## Abstract We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (__FGFR3__) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. A
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
โ Scribed by Jules G. Leroy; Lieve Nuytinck; Jo Lambert; Jean-Marie Naeyaert; Geert R. Mortier
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 288 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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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
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