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Article

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

Molecular genetics & genomic medicine - 1 Mar 2021

Markova Tatiana, Sparber Peter, Borovikov Artem, Nagornova Tatiana, Dadali Elena

Abstract excerpt

BACKGROUND: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and COL11A2 genes. Autosomal recessive forms are rare. However, 19 patients have been reported to date, with STL caused by homozygous or...

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

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Source

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Identifiers

PMID: 33570243
DOI: 10.1002/mgg3.1620
PMCID: PMC8104176

Genes

COL9A3
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2

Variants

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

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Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.PMID 33570243Read ↗

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

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

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

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