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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Podrobná bibliografie
Vydáno v:	The Lancet (British edition) Ročník 351; číslo 9106; s. 877 - 878
Hlavní autoři:	Hollway, Georgina E, Suthers, Graeme K, Battese, Katie M, Turner, Anne M, David, David J, Mulley, John C
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Elsevier Ltd 21.03.1998 Lancet Elsevier Limited
Témata:	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
On-line přístup:	Získat plný text
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Popis
Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Correspondence-1 content type line 23
ISSN:	0140-6736 1474-547X
DOI:	10.1016/S0140-6736(98)24012-8