Published February 22, 2023
| Version 21.8
Journal article
Open
H63D Mutation Syndrome Type-2
Creators
- 1. LCG Research
- 2. Gangnon Luxembourg
- 3. Milad Medical
- 4. H63D Research Consortium
- 5. Independent researcher (South Africa)
- 6. LCG Rsearch
- 7. Norway Med 2.0
Description
After a long period of research, the International HFE H63D Research Consortium has now defined another clinical variant of H63D syndrome (henceforth referred to as H63D type-1) after evaluation of 1082 patient cases: "H63D syndrome type-2". Its characteristics and clinical picture are presented in this first preliminary paper on type-2 of H63D syndrome.
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