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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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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4935762/ https://ncbi.nlm.nih.gov/pubmed/27408751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.18 |
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