Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.

Abstract excerpt

BACKGROUND: Nance-Horan Syndrome (NHS) is a rare genetic disorder caused by pathogenic variants in the NHS gene. Phenotypically, NHS is characterized by severe congenital cataracts, dental anomalies, distinct facial features, and developmental defects. Here, we document a novel variant in the NHS gene and investigate the consequent phenotypic manifestations. METHODS: Ophthalmologic findings along with medical...

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