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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Iran J Med Sci
Päätekijät: Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Iranian Journal of Medical Sciences 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5936857/
https://ncbi.nlm.nih.gov/pubmed/29749994
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