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Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee

Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result...

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書目詳細資料
發表在:Case Rep Hematol
Main Authors: Worth, Heidi A., Marlette, Zachary, Aljadir, David, Lands, Ronald
格式: Artigo
語言:Inglês
出版: Hindawi 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7271056/
https://ncbi.nlm.nih.gov/pubmed/32547795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/2837573
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