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Deafness due to Pro250Arg mutation of FGFR3

✍ Scribed by Georgina E Hollway; Graeme K Suthers; Katie M Battese; Anne M Turner; David J David; John C Mulley


Book ID
117311884
Publisher
The Lancet
Year
1998
Tongue
English
Weight
155 KB
Volume
351
Category
Article
ISSN
0140-6736

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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

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## Abstract Craniosynostosis is the premature fusion of one or more sutures of the skull, which can be syndromic or isolated. Mutations in __FGFR1__, __FGFR2__, or __FGFR3__, among others, are often responsible for these syndromic cases. The associated of __FGFR3__ mutations with craniosynostosis h