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

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

24 Feb 2010

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Aortic aneurysm repair treatments
Share to Bone and Dental Protein Studies
Share to Connective tissue disorders research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20179744
DOI: 10.1038/ejhg.2010.23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsPMID 20179744Read ↗

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsSemantic proximity Read ↗

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.Semantic proximity Read ↗

Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.Semantic proximity Read ↗

A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.Semantic proximity Read ↗

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.Semantic proximity Read ↗

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.Semantic proximity Read ↗

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingSemantic 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 ↗

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Semantic proximity Read ↗

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

Vitreous phenotype: genotype correlation in Stickler syndrome.Semantic proximity Read ↗

Stickler syndrome type 2 and linkage to the COL11A1 gene.Semantic proximity Read ↗

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