Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome [1]

American Journal of Medical Genetics

Volumn 116 A, Issue 4, 2003, Pages 385-388

  Garavelli, Livia ^a,b   Donadio, A ^b   Zanacca, C ^b   Banchini, G ^b   Della Giustina, E ^b   Bertani, G ^b   Albertini, G ^b   Del Rossi, C ^c   Zweier, C ^d   Rauch, A ^d   Zollino, M ^e   Neri, G ^e  

^a Dipartimento di Patologia Clinica   (Italy)

^b S MARIA NUOVA HOSPITAL   (Italy)

^c Parma Hospital   (Italy)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; ZINC FINGER PROTEIN; DNA; REPRESSOR PROTEIN; ZFHX1B PROTEIN, HUMAN;

CASE REPORT; CHROMOSOME 2Q; COMPUTED TOMOGRAPHIC COLONOGRAPHY; FACE MALFORMATION; FRAMESHIFT MUTATION; GENE SEQUENCE; HIRSCHSPRUNG DISEASE; HOMEOBOX; HUMAN; INFANT; LETTER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MOWAT WILSON SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SYNDROME; ZFHX1B GENE; CONGENITAL MALFORMATION; FACE; GENETICS; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NOTE; PATHOLOGY;

ABNORMALITIES, MULTIPLE; DNA; FACE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MENTAL RETARDATION; MUTATION; REPRESSOR PROTEINS; SYNDROME;

EID: 10744226759     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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