Behçet Disease-Like Symptoms with a Novel COPA Mutation
نویسندگان
چکیده
منابع مشابه
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
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Vascular involvement is one of the major causes of mortality and morbidity in Behçet disease (BD). There are no controlled studies for the management of vascular BD (VBD), and according to the EULAR recommendations, only immunosuppressive (IS) agents are recommended. In this study, we aimed to investigate the therapeutic approaches chosen by Turkish physicians during the initial event and relap...
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I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
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Results We identified 21 putative candidate variants that are both novel and consistent with dominant inheritance. Sanger sequencing validated all 21 variants. Three variants identified in TNFRSF9, MGEA5, and TNFAIP3 genes were confirmed to have arisen de novo in the affected mother based on the genotyping of the healthy maternal grandmother, the maternal unaffected brother, and the unaffected ...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2020
ISSN: 2090-6544,2090-6552
DOI: 10.1155/2020/8414857