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Article

Dominant Stickler Syndrome

18 Jun 2022

Abstract excerpt

The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas...

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Identifiers

PMID: 35741851
DOI: 10.3390/genes13061089

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