Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B): Report of three Italian cases with hypospadias and review

Hormone Research

Volumn 63, Issue 4, 2005, Pages 187-192

  Garavelli, L ^a,h   Cerruti Mainardi, P ^b   Virdis, R ^c   Pedori, S ^a,c   Pastore, G ^b   Godi, M ^b   Provera, S ^b   Rauch, A ^d   Zweier, C ^d   Zollino, M ^e   Banchini, G ^a   Longo, N ^f   Mowat, D ^g   Neri, G ^e   Bernasconi, S ^c  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b SANT'ANDREA HOSPITAL   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g SYDNEY CHILDREN'S HOSPITAL   (Australia)

^h Azienda Ospedaliera   (Italy)

Author keywords

Craniofacial phenotype; Hirschsprung disease; Hypospadias; Mowat Wilson syndrome, genitourinary anomalies; ZFHX1B gene (SIP1); Zinc finger homeo box 1B gene, ZFHX1B

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOSPADIAS; MALE; MENTAL DEFICIENCY; MOWAT WILSON SYNDROME; PHENOTYPE; PRIORITY JOURNAL; UROGENITAL TRACT MALFORMATION; ZINC FINGER HOMEOBOX 1B GENE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; HOMEODOMAIN PROTEINS; HUMANS; HYPOSPADIAS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MICROCEPHALY; PHENOTYPE; POINT MUTATION; REPRESSOR PROTEINS; SYNDROME;

EID: 21044446964     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000085894     Document Type: Article

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