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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
BACKGROUND: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a...
Zapisane w:
| Wydane w: | J Med Case Rep |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5574094/ https://ncbi.nlm.nih.gov/pubmed/28841907 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1396-y |
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