Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
about
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Identification of three novel NHS mutations in families with Nance-Horan syndromeLinkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseCharacterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease geneThe genetics of childhood cataractThe genetics of cataract: our vision becomes clearer.The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).X-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.Nance-Horan Syndrome: A Rare Case Report.Aetiology of congenital and paediatric cataract in an Australian population.
P2860
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P2860
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
description
1990 nî lūn-bûn
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1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
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1990年の論文
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1990年論文
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1990年論文
@zh-hant
1990年論文
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1990年論文
@zh-mo
1990年論文
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1990年论文
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name
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@ast
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@en
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
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type
label
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@ast
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@en
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@nl
prefLabel
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@ast
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@en
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@nl
P2093
P2860
P1476
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
@en
P2093
P2860
P407
P577
1990-07-01T00:00:00Z