Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management

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...

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Detalles Bibliográficos
Autores principales: Wu, Hui‐Xuan, Liu, Jun‐Ying, Yan, De‐Wen, Li, Long, Zhuang, Xiang‐Hua, Li, Hai‐Yan, Zhou, Zhi‐Guang, Zhou, Hou‐De
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767552/
https://www.ncbi.nlm.nih.gov/pubmed/33016646
http://dx.doi.org/10.1002/mgg3.1522

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