Familial acanthosis nigricans with p.K650T FGFR3 mutation
Author:
Affiliation:
1. Department of Dermatology; Hamamatsu University School of Medicine
2. Division of Dermatology; Hamamatsu Medical Center; Hamamatsu
3. Department of Dermatology; Keio University School of Medicine; Tokyo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14107/fullpdf
Reference15 articles.
1. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans;Meyers;Nat Genet,1995
2. Long-term survival in typical thanatophoric dysplasia type 1;Baker;Am J Med Genet,1997
3. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene;Tavormina;Am J Hum Genet,1999
4. Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3;Van Esch;Genet Couns,2004
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