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

• 主要な著者: Chao Ling (著者), Ruifang Sui (著者), Fengxia Yao (著者), Zhihong Wu (著者), Xue Zhang (著者), Shuyang Zhang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2019-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...