Article
[Clinical and genetic analysis of a family with autosomal dominant-familial Mediterranean fever].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021
Li Dongfang, Tang Wenting, Qiu Kunyin, Pan Liangwu, Li Xiaojuan, Wu Ruohao
Abstract excerpt
OBJECTIVE: To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF). METHODS: A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted...
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