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
β¦ LIBER β¦
Deafness due to Pro250Arg mutation of FGFR3
β 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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## 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
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