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Article

Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.

The British journal of ophthalmology - 1 Jun 2023

Guo Dongwei, Yang Fengmei, Zhou Yijing, Zhang Xinyu, Cao Qianzhong, Jin Guangming, Zheng Danying

Abstract excerpt

BACKGROUND: To characterise the phenotype and genetic defects of isolated ectopia lentis (IEL) and to determine the ADAMTSL4 gene mutation frequencies in a Chinese congenital ectopia lentis (CEL) cohort. METHODS: In total, 127 Chinese probands with a clinical CEL diagnosis were recruited for this study and underwent ocular and systemic examinations. Whole-exome sequencing was used to detect variants, and Sanger...

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Identifiers

PMID: 35042684
DOI: 10.1136/bjophthalmol-2021-320475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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