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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

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

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 126 KB
Volume: 116A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10855

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## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with “syndromic Hirschsprung disease” with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinc