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Article

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

American journal of human genetics - 1 Feb 2009

Ahram Dina, Sato T Shawn, Kohilan Abdulghani, Tayeh Marwan, Chen Shan, Leal Suzanne, Al-Salem Mahmoud, El-Shanti Hatem

Abstract excerpt

Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocul...

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Source

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Identifiers

PMID: 19200529
DOI: 10.1016/j.ajhg.2009.01.007
PMCID: PMC2668005

Genes

ADAMTSL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19200529-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.PMID 19200529Read ↗

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.Semantic proximity Read ↗

Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.Semantic proximity Read ↗

Confirmation of <i>ADAMTSL4</i> mutations for autosomal recessive isolated bilateral Ectopia LentisSemantic proximity Read ↗

Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.Semantic proximity Read ↗

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 FamiliesSemantic proximity Read ↗

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.Semantic proximity Read ↗

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.Semantic proximity Read ↗

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.Semantic proximity Read ↗

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.Semantic proximity Read ↗

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.Semantic proximity Read ↗

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.Semantic proximity Read ↗

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.Semantic proximity Read ↗

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