Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 2319589.
- Also identified by PMC identifier 1016927.
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Abstract
A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous.
Medical subject headings
- Bone Diseases, Developmental
- Collagen
- Facial Bones
- Retinal Degeneration
- Skull