Cobbleston-like brain dysgenesis and altered glycosylation in congenital cutis laxa, debri type

Neurology

Volumn 73, Issue 14, 2009, Pages 1164-

  Morava, E ^a   Wevers, R A ^a   Willemsen, M A ^a   Lefeber, D ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN C3; ATP6V0A2 PROTEIN, HUMAN; DYSTROGLYCAN; G PROTEIN COUPLED RECEPTOR; GPR56 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ATP6V0A2 GENE; BRAIN MALFORMATION; COBBLESTONE LIKE BRAIN DYSGENESIS; CUTIS LAXA; GENE; GENE MUTATION; GLYCOSYLATION; HUMAN; LETTER; PRIORITY JOURNAL; BIOSYNTHESIS; BLOOD; BRAIN; CLASSIFICATION; CONGENITAL DISORDER; CONGENITAL MALFORMATION; CORTICAL DYSPLASIA; GENETICS; METABOLISM; MUTATION; NOTE; SECRETION;

APOLIPOPROTEIN C-III; BRAIN; CONGENITAL ABNORMALITIES; CUTIS LAXA; DYSTROGLYCANS; GLYCOSYLATION; HUMANS; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; PROTON-TRANSLOCATING ATPASES; RECEPTORS, G-PROTEIN-COUPLED;

EID: 70349753266     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b26daf     Document Type: Letter

References (4)

1. L Van Maldergem M Yuksel-Apak H Kayserili Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type Neurology 71 2008 1602 1608
2. E Morava DJ Lefeber Z Urban Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation Eur J Hum Genet 16 2008 28 35
3. U Kornak E Reynders A Dimopoulou Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nat Genet 40 2008 32 34
4. AJ Barkovich RI Kuzniecky GD Jackson R Guerrini WB Dobyns A developmental and genetic classification for malformations of cortical development Neurology 65 2005 1873 1887