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Article

Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.

Experimental eye research - 1 Nov 2024

Chen Tianhui, Liu Yan, Zhao Ye, Wang Mingqi, Song Linghao, Jiang Yongxiang

Abstract excerpt

Several unique mutations of ADAMTSL4 leading to congenital ectopia lentis (CEL) have been previously reported by our team. The purpose of this study is to find out the possible mechanism of a recurrent novel intronic variant in ADAMTSL4 led to CEL. Twelve novel ADAMTSL4 mutations with a unique form congenital ectopic lentis were detected previously by panel-based NGS. Genetic analysis verified a novel...

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Identifiers

PMID: 39278391
DOI: 10.1016/j.exer.2024.110090

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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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