Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome
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Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by congenital cataracts, dental anomalies, and neurodevelopmental impairments, caused by mutations in the NHS gene. In this study, two novel NHS mutations, c.3847C>T and c.2519_2520de... ...
