Mowat-Wilson syndrome and mutation of the Zinc Finger Homeo Box 1B gene: A new syndrome probably under-diagnosed

Italian Journal of Pediatrics

Volumn 31, Issue 2, 2005, Pages 116-125

  Cerruti Mainardi, Paola ^a   Garavelli, L ^b   Pastore, G ^a   Virdis, R ^c   Pedori, S ^d   Godi, M ^a   Provera, S ^a   Rauch, A ^d   Zweier, C ^d   Castronovo, C ^a   Zollino, M ^e   Banchini, G ^b   Bernasconi, S ^c   Neri, G ^e  

^a SANT'ANDREA HOSPITAL   (Italy)

^b S MARIA NUOVA HOSPITAL   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

HSCR; Mental retardation; Mowat Wilson syndrome; ZFHX1B gene

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CORPUS CALLOSUM AGENESIS; DENVER DEVELOPMENTAL SCREENING TEST II; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC COUNSELING; HOMEOBOX; HUMAN; HYPOSPADIAS; INFANT; ITALY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOWAT WILSON SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SCREENING TEST; SEIZURE; SEX CHROMOSOME MOSAICISM; ZINC FINGER HOMEOBOX 1B GENE;

EID: 23644451167     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

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