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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
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 |