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.
