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Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature Review 

2021-03-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts. It is often caused by mutations in the Iron Response Element (IRE) of the ferritin L-subunit (<italic>FTL</italic>) gene. Most of the mutations are point mutations located in the upper stem and the...

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Literature Corpus work
8c1595cb-2539-5b26-b817-98bb67d6a003
DOI
10.21203/rs.3.rs-290096/v1
Open publication

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Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature Review&nbsp;DOI 10.21203/rs.3.rs-290096/v1
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