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Article

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.

Molecular genetics & genomic medicine - 1 Sept 2020

Brizola Evelise, Gnoli Maria, Tremosini Morena, Nucci Paolo, Bargiacchi Sara, La Barbera Andrea, Giglio Sabrina, Sangiorgi Luca

Abstract excerpt

BACKGROUND: Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in...

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PMID: 32558342
DOI: 10.1002/mgg3.1353
PMCID: PMC7507508

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.PMID 32558342Read ↗

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