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Article

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

BMC medical genetics - 7 Jan 2017

Tian Qi, Li Yunping, Kousar Rizwana, Guo Hui, Peng Fenglan, Zheng Yu, Yang Xiaohua, Long Zhigao, Tian Runyi, Xia Kun, Lin Haiying, Pan Qian

Abstract excerpt

BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: Here, we report a four-generation Chinese family with...

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Asian People
Cataract
Genetic Diseases, X-Linked
Membrane Proteins
Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

Tooth Abnormalities

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Identifiers

PMID: 28061824
DOI: 10.1186/s12881-016-0360-9
PMCID: PMC5219716

Genes

NHS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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