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Article

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

American journal of medical genetics. Part A - 1 Jul 2011

Baker Stuart, Booth Carol, Fillman Corrine, Shapiro Michael, Blair Michael P, Hyland James C, Ala-Kokko Leena

Abstract excerpt

Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities. We describe a family with autosomal recessive Stickler syndrome. The main clinical findings consisted of high myopia, vitreoretinal degeneration, retinal detachment, hearing loss, and short stature. Affected family members were found to have a homozygous loss-of-function mutation in COL9A2, c.843_c.846 + 4del8. A family...

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Source

Identifiers

PMID: 21671392
DOI: 10.1002/ajmg.a.34071

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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.

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