Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
Cecconi
Massimiliano
M
Laboratory of Genetics, Galliera Hospital, and Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy.
Forzano
Francesca
F
Garavelli
Livia
L
Pantaleoni
Chiara
C
Grasso
Marina
M
Dagna Bricarelli
Franca
F
Perroni
Lucia
L
Di Maria
Emilio
E
Faravelli
Francesca
F
D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D012008:Recurrence; D012097:Repressor Proteins / Q000235:genetics*; D012306:Risk; D035781:Siblings; 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