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A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

✍ Scribed by Patricia L. Tavormina; Gary A. Bellus; Melanie K. Webster; Michael J. Bamshad; Alexander E. Fraley; Iain McIntosh; Jinny Szabo; Wen Jiang; Ethylin W. Jabs; William R. Wilcox; John J. Wasmuth; Daniel J. Donoghue; Leslie M. Thompson; Clair A. Francomano

Book ID: 117852737
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 522 KB
Volume: 64
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302275

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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