A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene

Turkish Journal of Pediatrics

Volumn 54, Issue 5, 2012, Pages 523-527

  Meral, Cihan ^a   Malbora, Bariş ^a   Çelikel, Fatih ^a   Aydemir, Gökhan ^a   Süleymanoǧlu, Selami ^a   Zollino, Marcella ^b   Derbent, Murat ^c  

^a GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

^b FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^c BASKENT UNIVERSITY   (Turkey)

Author keywords

Facial dysmorphism; Hirsch sprung disease; Mental retardation; Mowat Wilson syndrome; ZEB2 gene

Indexed keywords

TRANSCRIPTION FACTOR ZEB1; TRANSCRIPTION FACTOR ZEB2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM; EXON; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MOWAT-WILSON SYNDROME; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SEIZURE; UROGENITAL TRACT MALFORMATION; ZEB2 GENE;

DNA; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FRAMESHIFT MUTATION; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHENOTYPE; REPRESSOR PROTEINS; ZINC FINGERS;

EID: 84873197186     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

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