Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1295-462.pdf
Reference30 articles.
1. Reardon, W. et al. Mutations in the fibnoblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet. 8, 98–103 (1994).
2. Jabs, E.W. et al. Jackson–Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet. 8, 275–279 (1994).
3. Gorry, M.C. et al. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson–Weiss syndrome. Hum. molec. Genet. 4, 1387–1390 (1995).
4. Park, W.-J. et al. Novel FGFR2 mutations in Crouzon and Jackson–Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum. molec. Genet. 4, 1229–1233 (1995).
5. Li, X., Park, W.-J., Pyeritz, R.E. & Jabs, E.W. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nature Genet. 9, 232–233 (1995).
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