Brazilian family with hyperferritinemia-cataract syndrome: case report
ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum f...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Instituto Israelita de Ensino e Pesquisa Albert Einstein
2022-10-01
|
| Rangatū: | Einstein (São Paulo) |
| Ngā marau: | |
| Urunga tuihono: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100519&tlng=en |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|