H63D Mutation Syndrome Type-2

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

doi:10.22541/au.167769979.98495967/v1

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H63D Mutation Syndrome Type-2

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

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.