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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2019-01-01T00:00:00Z.
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