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Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

18 Nov 2018

Abstract excerpt

Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX...

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PMID: 30450842
DOI: 10.1002/ajmg.a.40647

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