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Sudden infant death in a patient with FGFR3 P250R mutation

✍ Scribed by P.S. Shah; K. Siriwardena; G. Taylor; L. Steele; P. Ray; S. Blaser; D. Chitayat

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 92 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31517

No coin nor oath required. For personal study only.

✦ Synopsis

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. © 2006 Wiley‐Liss, Inc.

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