Genetic research on Nance-Horan syndrome caused by a new novel in the NHS

Gene(2024)

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摘要
••In NHS syndrome, a posterior capsule defect of the lens may occur.•A novel frameshift mutation in the NHS gene resulted in a more severe congenital cataract.•The detection of a novel variant in NHS is valuable for further genotype-phenotype analysis.•A comprehensive physical examination is important for the diagnosis of congenital cataract.
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关键词
Cataract-oto-dental syndrome,Congenital cataract,Nance-Horan Syndrome,NHS gene,X-linked cataract
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