Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Item
http://www.wikidata.org/entity/Q34380339
Identification of three novel NHS mutations in families with Nance-Horan syndromeIdentification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingExome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.Clinical and experimental advances in congenital and paediatric cataracts.The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformCongenital cataracts and their molecular geneticsX-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.Nance-Horan syndrome-The oral perspective on a rare disease.
P2860

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Item
http://www.wikidata.org/entity/Q34380339
description
2005 nî lūn-bûn
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2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
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Truncating mutation in the NHS ...... ome in an asian Indian family.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921