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[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Sept 2024

Li L, Zheng G Y, Song J X, Yue J F, Tan N

Abstract excerpt

Objective: To explore the clinical phenotypes and pathogenic gene variation characteristics of three Chinese Han ethnic families affected by Nance-Horan syndrome, a rare X-linked genetic disorder. Methods: A pedigree investigation study was conducted at the First Affiliated Hospital of Zhengzhou University, collecting clinical data from three Chinese Han families with Nance-Horan syndrome between February 2009...

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PMID: 39267554
DOI: 10.3760/cma.j.cn112142-20231113-00230

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