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H63D Mutation Syndrome Type-2
  • +9
  • Dr. Carolina Diamandis,
  • Ali Shirazi,
  • Riku Honda,
  • Marius Lazar,
  • Fabio Rocha,
  • Jacob Adams,
  • Jonathan Feldman,
  • Alexander Bartels,
  • Marianne Kaufmann,
  • Sven Olsen,
  • Adrian Tudor,
  • Olga Ivanova
Dr. Carolina Diamandis

Corresponding Author:diamandis@lazar-consortium.com

Author Profile
Ali Shirazi
Riku Honda
Marius Lazar
Fabio Rocha
Jacob Adams
Jonathan Feldman
Alexander Bartels
Marianne Kaufmann
Sven Olsen
Adrian Tudor
Olga Ivanova

Abstract

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.