Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
Ishihara
N
N
Yamada
K
K
Yamada
Y
Y
Miura
K
K
Kato
J
J
Kuwabara
N
N
Hara
Y
Y
Kobayashi
Y
Y
Hoshino
K
K
Nomura
Y
Y
Mimaki
M
M
Ohya
K
K
Matsushima
M
M
Nitta
H
H
Tanaka
K
K
Segawa
M
M
Ohki
T
T
Ezoe
T
T
Kumagai
T
T
Onuma
A
A
Kuroda
T
T
Yoneda
M
M
Yamanaka
T
T
Saeki
M
M
Segawa
M
M
Saji
T
T
Nagaya
M
M
Wakamatsu
N
N
D000328:Adult; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / 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