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Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

BMC medical genomics - 25 Sept 2023

Zi Feiyin, Li Zhen, Cheng Wanyu, Huang Xiaoyu, Sheng Xunlun, Rong Weining

Abstract excerpt

PURPOSE: To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. METHODS: 5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital from January 2021 to June 2022. The probands and their family members received comprehensive ophthalmic examinations,and DNA...

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PMID: 37749571
DOI: 10.1186/s12920-023-01665-x
PMCID: PMC10521526

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