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    Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

    Published 2012-01-01
    “…All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. …”
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