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Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome
AIMS: to specify ophthalmic findings in multi systemic smooth muscle dysfunction syndrome, recently clarified as due to a R179H mutation in the ACTA2 gene encoding smooth muscle cell α-actin. METHODS: An observational clinical series of three children who underwent full ophthalmic evaluation. RESULT...
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| Publicado no: | Br J Ophthalmol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4358743/ https://ncbi.nlm.nih.gov/pubmed/22790431 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2011-301462 |
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