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Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome

Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft pala...

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Detalles Bibliográficos
Autores principales:	Kondo, Hiroyuki, Matsushita, Itsuka, Nagata, Tatsuo, Hayashi, Takaaki, Kakinoki, Masashi, Uchio, Eiichi, Kondo, Mineo, Ohji, Masahito, Kusaka, Shunji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935762/ https://www.ncbi.nlm.nih.gov/pubmed/27408751 http://dx.doi.org/10.1038/hgv.2016.18

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