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 type XI collagenopathies.

Pediatric radiology - 1 Oct 1998

Spranger J

Abstract excerpt

Type XI collagen is a minor component of cartilage collagen. Mutations of the three genes coding for its proteins are expressed in a peculiar phenotype. Clinical changes include facial anomalies, cleft palate and hearing defects. Ocular changes occur in some disorders. Radiographs show a spectrum of epiphyseal dysplasias with wide metaphyses and spondylar abnormalities. The pattern of clinical and radiographic...

Read the complete abstract on PubMed

Topics

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

Share to Syndrome
Share to Phenotype
Share to Radiography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Collagen

Share to Mutation

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 9799295
DOI: 10.1007/s002470050459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The type XI collagenopathies.PMID 9799295Read ↗

Genetic and orthopedic aspects of collagen disorders.Semantic proximity Read ↗

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

Etiology and pathogenesis of heritable connective tissue diseases.Semantic proximity Read ↗

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

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.Semantic proximity Read ↗

The collagenopathies: review of clinical phenotypes and molecular correlations.Semantic proximity Read ↗

Dominant Stickler SyndromeSemantic proximity Read ↗

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Semantic proximity Read ↗

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disordersSemantic proximity Read ↗

Heritable diseases of cartilage caused by mutations in collagen genes.Semantic proximity Read ↗

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

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.Semantic proximity Read ↗

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