Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type.
Morava
E
E
Wevers
R A
RA
Willemsen
M A
MA
Lefeber
D
D
D053305:Apolipoprotein C-III / Q000096:biosynthesis / Q000097:blood / Q000378:metabolism*; D001921:Brain / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000145:classification; D003483:Cutis Laxa / Q000150:complications* / Q000378:metabolism; D049030:Dystroglycans / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D054220:Malformations of Cortical Development / Q000145:classification* / Q000378:metabolism; D009154:Mutation; D006180:Proton-Translocating ATPases / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics
C118925:ADGRG1 protein, human; C525845:ATP6V0A2 protein, human; D053305:Apolipoprotein C-III; D043562:Receptors, G-Protein-Coupled; D049030:Dystroglycans; D006180:Proton-Translocating ATPases