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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

โœ Scribed by DM Moloney; SA Wall; GJ Ashworth; M Oldridge; IA Glass; CA Francomano; M Muenke; AOM Wilkie

Book ID
118560348
Publisher
The Lancet
Year
1997
Tongue
English
Weight
93 KB
Volume
349
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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