Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

Syndrome of coronal craniosynostosis wit

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

✍ Graham, John M.; Braddock, Stephen R.; Mortier, Geert R.; Lachman, Ralph; Van Do 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the d