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

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

Investigative ophthalmology & visual science - 3 Feb 2011

Neuhann Teresa M, Artelt Juliane, Neuhann Thomas F, Tinschert Sigrid, Rump Andreas

Abstract excerpt

PURPOSE: The purpose of the study was to look for ADAMTSL4 mutations in a cohort of German patients with isolated ectopia lentis from nonconsanguineous families. METHODS: Mutation screening was performed by PCR amplification of the coding exons of ADAMTSL4 and subsequent sequencing. RESULTS: An identical homozygous deletion of 20 bp of coding sequence within exon 6 (NM_019032.4:c.759_778del20) was identified in...

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 Ectopia Lentis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Gene Deletion

Share to Homozygote

Share to Infant, Newborn

Share to Microsatellite Repeats

Share to Thrombospondins

Source

Identifiers

PMID: 21051722
DOI: 10.1167/iovs.10-5740

Genes

ADAMTSL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.PMID 21051722Read ↗

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

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.Semantic proximity Read ↗

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.Semantic proximity Read ↗

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

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

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

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

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

[Hereditary ectopia lentis].Semantic proximity Read ↗

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

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