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Article

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

American journal of medical genetics - 30 Oct 1998

Ballo R, Beighton P H, Ramesar R S

Abstract excerpt

The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss...

Topics

Abnormalities, Multiple
Amino Acid Sequence
Base Sequence
Collagen
Connective Tissue Diseases
Eye Diseases
Female
Genes, Dominant
Genetic Linkage
Genotype
Humans
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Point Mutation

Syndrome

Source

Identifiers

PMID: 9800905
DOI: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9800905-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.PMID 9800905Read ↗

Dominant Stickler SyndromeSemantic proximity Read ↗

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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 ↗

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

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The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Semantic proximity Read ↗

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.Semantic proximity Read ↗

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

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

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