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 new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

American journal of human genetics - 1 Sept 2006

Van Camp Guy, Snoeckx Rikkert L, Hilgert Nele, van den Ende Jenneke, Fukuoka Hisakumi, Wagatsuma Michio, Suzuki Hiroaki, Smets R M Erica, Vanhoenacker Filip, Declau Frank, Van de Heyning Paul, Usami Shin-ichi

Abstract excerpt

Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant inheritance pattern and is caused by mutations in COL2A1, COL11A1, and COL11A2. We describe a family of Moroccan origin that consists of four children with Stickler syndrome, six unaffected children, and two unaffected parents who are distant relatives (fifth degree). All family...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type II
Share to Collagen Type IX

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type XI

Share to Hearing Loss, Sensorineural

Share to Maxilla

Share to Myopia

Share to Osteochondrodysplasias

Share to Retinal Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 16909383
DOI: 10.1086/506478
PMCID: PMC1559536

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

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.PMID 16909383Read ↗

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.Semantic proximity Read ↗

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

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.Semantic proximity Read ↗

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.Semantic proximity Read ↗

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.Semantic proximity Read ↗

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutationSemantic proximity Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

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