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Article

ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.

Ophthalmic genetics - 1 Dec 2017

van Bysterveldt Katherine A, Al Taie Rasha, Ikink Will, Oliver Verity F, Vincent Andrea L

Abstract excerpt

BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic...

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Source

Identifiers

PMID: 28394649
DOI: 10.1080/13816810.2017.1309552

Genes

ADAMTSL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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