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Article

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.

The British journal of ophthalmology - 1 May 2013

Sharifi Yassi, Tjon-Fo-Sang Martha J, Cruysberg Johannes R M, Maat-Kievit Anneke J

Abstract excerpt

OBJECTIVES: To identify the phenotype, genetic defect and inheritance pattern of ectopia lentis et pupillae (ELP) in a large Dutch family, previously diagnosed as presumed autosomal dominant ELP because of the occurrence of ELP in three generations. DESIGN: A clinical and genetic study of children and adults. PARTICIPANTS: Eight patients of the ELP family, including five new patients from the youngest generation....

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Source

Identifiers

PMID: 23426735
DOI: 10.1136/bjophthalmol-2012-302367

Genes

ADAMTSL4

Variants

Provenance

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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