Deafness due to Pro250Arg mutation of FGFR3

Hollway et al identified a family with autosomal dominant craniosynostosis and bilateral sensorineural hearing loss. They suggest that people with autosomal dominant non-syndromal deafness be examined for the Pro250Arg mutation in FGFR3.

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Bibliographic Details
Published in:	The Lancet (British edition) Vol. 351; no. 9106; pp. 877 - 878
Main Authors:	Hollway, Georgina E, Suthers, Graeme K, Battese, Katie M, Turner, Anne M, David, David J, Mulley, John C
Format:	Journal Article
Language:	English
Published:	London Elsevier Ltd 21.03.1998 Lancet Elsevier Limited
Subjects:	Biological and medical sciences Complex syndromes Craniosynostoses - complications Craniosynostoses - genetics Deafness Deafness - genetics Genes Hearing loss Hearing Loss, Sensorineural - complications Hearing Loss, Sensorineural - genetics Heredity Humans Medical genetics Medical sciences Mutation Pedigree Point Mutation Receptors, Fibroblast Growth Factor - genetics Human Nervous system diseases Gene Etiology Family study Craniosynostosis Diseases of the osteoarticular system Skull disease Dysostosis Genetics Mutation
ISSN:	0140-6736, 1474-547X
Online Access:	Get full text
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