TY - JOUR A2 - Perry, R. A2 - Chappell, S. A2 - Suri, M. AU - Mundhofir, Farmaditya E. P. AU - Yntema, Helger G. AU - van der Burgt, Ineke AU - Hamel, Ben C. J. AU - Faradz, Sultana M. H. AU - van Bon, Bregje W. M. PY - 2012 DA - 2012/12/01 TI - Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient SP - 949507 VL - 2012 AB - Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 ( Zeb2.）基因，也称为 SIP1.（Smad-Interaction蛋白1）和 ZFHX1B.，表明臭氧水能是主要的病理机制。大约80％的突变是废话和颤音突变（小插入或缺失）。大约一半的这些突变位于外显子八。在这里，我们通过分子分析向第一个用Mowat-Wilson综合征的印度尼西亚患者报告。SN - 2090-6544 UR - https://doi.org/10.1155/2012/949507 Do - 10.1155 / 2012/949507 JF - 遗传学PB - Hindwi Publishing Corporation KW - ER -