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

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

American journal of human genetics - 1 Feb 2000

Melkoniemi M, Brunner H G, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli R M, van Essen T, Warman M L, Bonaventure J, Miny P, Ala-Kokko L

Abstract excerpt

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler and Marshall syndromes-but can be distinguished by disproportionately short limbs, severe hearing l...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Codon, Terminator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen

Share to Consanguinity

Share to Deafness

Share to Diseases in Twins

Share to Osteochondrodysplasias

Share to Radiography

Source

Open in PubMed Open full text

Identifiers

PMID: 10677296
DOI: 10.1086/302750
PMCID: PMC1288089

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10677296-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.PMID 10677296Read ↗

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.Semantic proximity Read ↗

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.Semantic proximity Read ↗

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.Semantic proximity Read ↗

The type XI collagenopathies.Semantic proximity Read ↗

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.Semantic proximity Read ↗

Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.Semantic proximity Read ↗

The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.Semantic proximity Read ↗

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotypeSemantic proximity Read ↗

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.Semantic proximity Read ↗

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