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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Veröffentlicht in:The Lancet (British edition) Jg. 351; H. 9106; S. 877 - 878
Hauptverfasser: Hollway, Georgina E, Suthers, Graeme K, Battese, Katie M, Turner, Anne M, David, David J, Mulley, John C
Format: Journal Article
Sprache:Englisch
Veröffentlicht: London Elsevier Ltd 21.03.1998
Lancet
Elsevier Limited
Schlagworte:
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-Zugang:Volltext
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Beschreibung
Zusammenfassung: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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ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(98)24012-8