POFUT1

protein O-fucosyltransferase 1
OMIM: 607491
PanelMode of inheritanceDetails
1 panel
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DOWLING-DEGOS DISEASE 2, DDD2, Dowling-Degos disease