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Article

Genetic and clinical heterogeneity of Stickler syndrome.

American journal of medical genetics - 1 Oct 1991

Vintiner G M, Temple I K, Middleton-Price H R, Baraitser M, Malcolm S

Abstract excerpt

We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2A1 has been implicated as a gene which can give rise to Stickler syndrome based on evidence from 2 large families which each showed significant...

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PMID: 1683158
DOI: 10.1002/ajmg.1320410113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Genetic and clinical heterogeneity of Stickler syndrome.PMID 1683158Read ↗

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