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Article

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

Journal of Zhejiang University. Science. B - 1 Aug 2014

Hong Nan, Chen Yan-hua, Xie Chen, Xu Bai-sheng, Huang Hui, Li Xin, Yang Yue-qing, Huang Ying-ping, Deng Jian-lian, Qi Ming, Gu Yang-shun

Abstract excerpt

OBJECTIVE: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. METHODS: Whole exome sequencing analysis was performed on DNA from an affected...

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Source

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Identifiers

PMID: 25091991
DOI: 10.1631/jzus.B1300321
PMCID: PMC4129093

Genes

NHS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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