Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
Garavelli
L
L
Donadio
A
A
Zanacca
C
C
Banchini
G
G
Della Giustina
E
E
Bertani
G
G
Albertini
G
G
Del Rossi
C
C
Zweier
C
C
Rauch
A
A
Zollino
M
M
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation; 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; D004247:DNA