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

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

American journal of human genetics - 1 Feb 2007

Asai-Coakwell Mika, French Curtis R, Berry Karyn M, Ye Ming, Koss Ron, Somerville Martin, Mueller Rosemary, van Heyningen Veronica, Waskiewicz Andrew J, Lehmann Ordan J

Abstract excerpt

Colobomata represent visually impairing ocular closure defects that are associated with a diverse range of developmental anomalies. Characterization of a chromosome 8q21.2-q22.1 segmental deletion in a patient with chorioretinal coloboma revealed elements of nonallelic homologous recombination and nonhomologous end joining. This genomic architecture extends the range of chromosomal rearrangements associated with...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Proteins
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Coloboma

Share to Embryo, Nonmammalian

Share to Karyotyping

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 17236135
DOI: 10.1086/511280
PMCID: PMC1785352

Genes

GDF6

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GDF6, a novel locus for a spectrum of ocular developmental anomalies.PMID 17236135Read ↗

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.Semantic proximity Read ↗

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.Semantic proximity Read ↗

Genetics of anterior segment dysgenesis disorders.Semantic proximity Read ↗

Rare heterozygous GDF6 variants in patients with renal anomalies.Semantic proximity Read ↗

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.Semantic proximity Read ↗

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.Semantic proximity Read ↗

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.Semantic proximity Read ↗

Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanomaSemantic proximity Read ↗

Anirdia-like phenotype caused by 6p25 dosage aberrations.Semantic proximity Read ↗

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromeSemantic proximity Read ↗

High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.Semantic proximity Read ↗

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.Semantic proximity Read ↗

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