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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