Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

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, microce...

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发表在:	Case Reports in Genetics
Main Authors:	Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon
格式:	文件
语言:	英语
出版:	Wiley 2012-01-01
在线阅读:	http://dx.doi.org/10.1155/2012/949507