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A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis

✍ Scribed by Lin Chen; Dan Li; Cuiling Li; April Engel; Chu-Xia Deng

Book ID
117807934
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
740 KB
Volume
33
Category
Article
ISSN
8756-3282

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✍ Okajima, Kazuki; Robinson, Luther K.; Hart, Meeghan A.; Abuelo, Dianne N.; Cowan πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 59 KB πŸ‘ 2 views

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