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

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 syndrome is associated with mutations in versican (...

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Detalles Bibliográficos
Autores principales: Tran-Viet, Khanh-Nhat, Soler, Vincent, Quiette, Valencia, Powell, Caldwell, Yanovitch, Tammy, Metlapally, Ravikanth, Luo, Xiaoyan, Katsanis, Nicholas, Nading, Erica, Young, Terri L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626300/
https://www.ncbi.nlm.nih.gov/pubmed/23592912

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