- Tytuł:
- Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis.
- Autorzy:
- Źródło:
- Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2018 Nov; Vol. 46 (8), pp. 962-964. Date of Electronic Publication: 2018 May 29.
- Typ publikacji:
- Case Reports; Letter
- MeSH Terms:
-
Mutation*
Cataract/*congenital
DNA/*geneticsHemochromatosis /*diagnosisHemochromatosis Protein/*geneticsIron Metabolism Disorders/*congenital
Adult ; Cataract/diagnosis ; Cataract/genetics ; DNA Mutational Analysis ; Female ;Hemochromatosis /congenital ;Hemochromatosis /genetics ;Hemochromatosis Protein/metabolism ; Humans ;Iron Metabolism Disorders/diagnosis ;Iron Metabolism Disorders/genetics ; Pedigree - SCR Disease Name:
- Hyperferritinemia, hereditary, with congenital cataracts
Raport