Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Garavelli, L; Donadio, A; Zanacca, C; Banchini, G; Della Giustina, E; Bertani, G; Albertini, G; Del Rossi, C; Zweier, C; Rauch, A; Zollino, M; Neri, G

Garavelli, L; Donadio, A; Zanacca, C; Banchini, G; Della Giustina, E; Bertani, G; Albertini, G; Del Rossi, C; Zweier, C; Rauch, A; Zollino, M; Neri, G.

Am J Med Genet A ; 116A(4): 385-8, 2003 Feb 01.

Article in En | MEDLINE | ID: mdl-12522797

Subject(s)

Abnormalities, Multiple/genetics; Hirschsprung Disease/genetics; Homeodomain Proteins/genetics; Intellectual Disability/genetics; Repressor Proteins/genetics; Abnormalities, Multiple/pathology; DNA/genetics; Face/abnormalities; Hirschsprung Disease/pathology; Humans; Mutation; Syndrome; Zinc Finger E-box Binding Homeobox 2

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Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Abnormalities, Multiple / Homeodomain Proteins / Hirschsprung Disease / Intellectual Disability Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2003 Document type: Article Country of publication: United States

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