Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Abstract Background Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmo...

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Bibliographic Details
Main Authors: Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Congenital cataract
Nance-Horan syndrome
Hereditary
NHS mutation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0725-3

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