Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.
Silengo
Margherita
M
Dipartimento di Scienze Pediatriche dell'Universita'di Torino, Torino, Italy.
Ferrero
Giovanni Battista
GB
Dipartimento di Scienze Pediatriche dell'Universita'di Torino, Torino, Italy.
Wakamatsu
Nobuaki
N
Aichi Human Service Center, Department of Genetics, Aichi, Japan.
D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D017353:Gene Deletion; D006627:Hirschsprung Disease / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2