Articles with "novel nhs" as a keyword



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A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome.

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Published in 2019 at "Molecular medicine reports"

DOI: 10.3892/mmr.2019.10106

Abstract: Nance‑Horan syndrome (NHS) is a rare X‑linked disorder with various clinical manifestations. The present study aimed to identify the pathogenic mutation causing NHS in a three‑generation Chinese family with 4 individuals presenting primarily with congenital… read more here.

Keywords: horan syndrome; chinese family; family; novel nhs ... See more keywords