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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...
Autores principales: | Worth, Heidi A., Marlette, Zachary, Aljadir, David, Lands, Ronald |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271056/ https://www.ncbi.nlm.nih.gov/pubmed/32547795 http://dx.doi.org/10.1155/2020/2837573 |
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