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Article

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Molecular genetics & genomic medicine - 1 May 2021

Khan Arif O, AlAbdi Lama, Patel Nisha, Helaby Rana, Hashem Mais, Abdulwahab Firdous, AlBadr Fahad B, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1-related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing impairment, midfacial hypoplasia, and arthropathy. However, some children have primarily ocular disease with mild 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: 33951325
DOI: 10.1002/mgg3.1628
PMCID: PMC8172201

Genes

COL2A1
COL11A1
LRPAP1
COL9A1

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.

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.PMID 33951325Read ↗

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