Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.

Abstract excerpt

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the Zinc Finger Homeobox 1 B gene (ZFHX1B). MWS has been reported in association with Hirschsprung disease (HSCR). MWS is sometimes difficult to diagnose clinically, especially when HSCR is absent. Thus, it is necessary to detect gene abnormalities at the molecular level. Here we report two Japanese...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to Codon, Nonsense