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Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family

Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder w...

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Detalhes bibliográficos
Publicado no:Iran J Med Sci
Main Authors: Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin
Formato: Artigo
Idioma:Inglês
Publicado em: Iranian Journal of Medical Sciences 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5936857/
https://ncbi.nlm.nih.gov/pubmed/29749994
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