نتایج جستجو برای: linked dominant

تعداد نتایج: 361300  

Journal: :British Journal of Dermatology 2023

Abstract Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations in FECH: raised protoporphyrin levels cause itching, burning and erythema after sun exposure, with facial scarring sometimes liver damage. We report a child the much rarer X-linked form (XLDPP) consider reasons for his unusually severe features. A 4-year-old boy living India presented long-standing er...

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