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Article

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

American journal of medical genetics. Part A - 1 Jan 2014

Faletra Flavio, D'Adamo Adamo P, Bruno Irene, Athanasakis Emmanouil, Biskup Saskia, Esposito Laura, Gasparini Paolo

Abstract excerpt

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have...

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PMID: 24273071
DOI: 10.1002/ajmg.a.36165

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Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.PMID 24273071Read ↗

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Autosomal recessive Stickler syndrome resulting from a COL9A3 mutationSemantic proximity Read ↗

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.Semantic proximity Read ↗

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotypeSemantic proximity Read ↗

Identification of three novel homozygous variants in COL9A3 causing autosomal-recessive Stickler SyndromeSemantic proximity Read ↗

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

Autosomal Recessive Stickler Syndrome.Semantic proximity Read ↗

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A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.Semantic proximity Read ↗

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