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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

✍ Scribed by Jabs, Ethylin Wang; Li, Xiang; Scott, Alan F.; Meyers, Gregory; Chen, Wendy; Eccles, Michael; Mao, Jen-i; Charnas, Lawrence R.; Jackson, Charles E.; Jaye, Michael


Book ID
109918577
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
566 KB
Volume
8
Category
Article
ISSN
1061-4036

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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