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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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Detalles Bibliográficos
Autores principales: Worth, Heidi A., Marlette, Zachary, Aljadir, David, Lands, Ronald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
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