Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Clinical genetics - 1 Apr 2026

Williams Katie M, Berger Wolfgang, Koller Samuel, Pfiffner Fatma Kivrak, Maspoli Alessandro, Gloggnitzer Jiradet, Brühwiler Britta V T, Stathopoulos Christina, Munier Francis, Allen Louise, Iosifidis Christos, Black Graeme C, Sergouniotis Panagiotis I, Lloyd Ian Christopher, Gerth-Kahlert Christina

Abstract excerpt

Pathogenic variants in ADAMTSL4 are an important cause of isolated ectopia lentis with an increasing number of genetically confirmed cases internationally. We sought to better describe ocular features seen with pathogenic variants in ADAMTSL4. We performed a retrospective, multicenter study examining the phenotypic and genotypic spectrum of ADAMTSL4-associated ocular disease. We identified 41 individuals from 32...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ADAMTS Proteins
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Ectopia Lentis

Share to Eye Diseases

Share to Genetic Association Studies

Share to Infant

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 41243720
DOI: 10.1111/cge.70109
PMCID: PMC12958011

Genes

ADAMTSL4
FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.PMID 41243720Read ↗

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.Semantic proximity Read ↗

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

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

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

Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.Semantic proximity Read ↗

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

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.Semantic proximity Read ↗

Disruption of <i>ADAMTSL4</i> Causes Ectopia Pupillae in Zebrafish via COL8A1-Driven Cell MigrationSemantic proximity Read ↗

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 ↗

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.Semantic proximity Read ↗

Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.