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Article

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.

Ophthalmic genetics - 1 Feb 2026

Cool Daniel, Dai Shuan, Lee Allister

Abstract excerpt

BACKGROUND: Poland Syndrome is primarily characterized by musculoskeletal anomalies, such as unilateral absence of the sternocostal head of the pectoralis major. Ocular associations with Poland syndrome are rare, and ADAMTSL4 mutations, typically linked to autosomal recessive ectopia lentis, have not been previously associated with this condition. CASE: We describe a 20-month-old female with left-sided Poland...

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Identifiers

PMID: 40987745
DOI: 10.1080/13816810.2025.2565650

Genes

ADAMTSL4

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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