| Literature DB >> 17103449 |
P S Shah1, K Siriwardena, G Taylor, L Steele, P Ray, S Blaser, D Chitayat.
Abstract
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. We report a family with this mutation associated with sudden death in an affected newborn, most probably due to upper airway obstruction. (c) 2006 Wiley-Liss, Inc.Entities:
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Year: 2006 PMID： 17103449 DOI： 10.1002/ajmg.a.31517
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802