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Mutation detection inFGFR2craniosynostosis syndromes

✍ Scribed by G. E. Hollway; Graeme K. Suthers; Eric A. Haan; Elizabeth Thompson; David J. David; Jozef Gecz; John C. Mulley


Book ID
106136566
Publisher
Springer
Year
1997
Tongue
English
Weight
145 KB
Volume
99
Category
Article
ISSN
0340-6717

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Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/ or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior cha