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Tran-Viet et al., 2013 - Google Patents

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes

Tran-Viet et al., 2013

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Document ID
14394694071120434714
Author
Tran-Viet K
Soler V
Quiette V
Powell C
Yanovitch T
Metlapally R
Luo X
Katsanis N
Nading E
Young T
Publication year
Publication venue
Molecular vision

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Purpose Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner …
Continue reading at pmc.ncbi.nlm.nih.gov (HTML) (other versions)

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