A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

about

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Item

http://www.wikidata.org/entity/Q49837914

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@en

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@nl

type

Item

label

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@en

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@nl

prefLabel

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@en

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@nl

P1476

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

@en

P2093

Huajin Li

http://www.w3.org/2001/XMLSchema#string

Lizhu Yang

http://www.w3.org/2001/XMLSchema#string

Ruifang Sui

http://www.w3.org/2001/XMLSchema#string

Shijing Wu

http://www.w3.org/2001/XMLSchema#string

Zhisheng Yuan

http://www.w3.org/2001/XMLSchema#string

Zixi Sun

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

Identification of three novel NHS mutations in families with Nance-Horan syndrome

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

The genetic and molecular basis of congenital cataract.

Congenital X-linked cataract, dental anomalies and brachymetacarpalia.

Elimination of cataract blindness: a global perspective entering the new millenium.

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

A Turkish family with Nance-Horan Syndrome due to a novel mutation.

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

P304

2398

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/S41598-018-20787-2

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2018-02-05T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29402928

http://www.w3.org/2001/XMLSchema#string

P932

5799206

http://www.w3.org/2001/XMLSchema#string