Article
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Molecular genetics & genomic medicine - 1 Dec 2020
Wu Hui-Xuan, Liu Jun-Ying, Yan De-Wen, Li Long, Zhuang Xiang-Hua, Li Hai-Yan, Zhou Zhi-Guang, Zhou Hou-De
Abstract excerpt
BACKGROUND: Atypical clinical symptoms of juvenile hereditary hemochromatosis (JHH) often leads to misdiagnosis and underdiagnosis bringing ominous outcomes, even death. METHODS: The whole exome was sequenced and interpreted. A literature review assisted to analyze and verify the phenotype-genotype relationships. We revealed the entire process of diagnosis, treatments, and outcome of two diabetic onset of JHH...
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