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

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

JAMA ophthalmology - 1 Aug 2014

Chandra Aman, Arno Gavin, Williamson Kathleen, Sergouniotis Panagiotis I, Preising Markus N, Charteris David G, Thompson Dorothy A, Holder Graham E, Borman Arundhati Dev, Davagnanam Indran, Webster Andrew R, Lorenz Birgit, FitzPatrick David R, Moore Anthony T

Abstract excerpt

IMPORTANCE: We describe novel ocular phenotypic features caused by mutations in ADAMTS18. The exact role of ADAMTS18 in ocular disease is unclear, and our work further contributes to the understanding of this gene and its protein. OBJECTIVE: To expand the phenotypic characterization in patients with homozygous mutations in ADAMTS18 and report novel mutational data. DESIGN, SETTING, AND PARTICIPANTS: A case series...

Read the complete abstract on PubMed

Topics

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

Share to ADAM Proteins
Share to ADAMTS Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adolescent

Share to Eye Abnormalities

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 24874986
DOI: 10.1001/jamaophthalmol.2014.940

Genes

ADAMTS18

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.PMID 24874986Read ↗

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

[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].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 ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.Semantic proximity Read ↗

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

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.Semantic proximity Read ↗

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

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

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.Semantic proximity Read ↗

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

Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem InvolvementSemantic proximity Read ↗

Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort.Semantic proximity Read ↗

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