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Analysis of acanthosis nigricans due to a fibroblast growth factor receptor 3 (FGFR3) LYS-650-met mutation

โœ Scribed by Bellus, Gary A.; Whalen, Elizabeth; Norris, David A.


Book ID
119562638
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
184 KB
Volume
16
Category
Article
ISSN
0923-1811

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Severe achondroplasia with developmental
โœ Bellus, Gary A.; Bamshad, Michael J.; Przylepa, Kelly A.; Dorst, John; Lee, Rola ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 87 KB ๐Ÿ‘ 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