Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report
نویسندگان
چکیده
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression.
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عنوان ژورنال:
دوره 22 شماره
صفحات -
تاریخ انتشار 2013