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�Q�l��: 1) Mowat DR, Croaker GDH, Wilson MJ et al :
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35: 617-623, 1998.; 2) Wakamatsu N, Yamada Y, Nagaya M et al
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nature Genet. 27: 369-370, 2001.; 3) Mowat, D. R.; Wilson, M. J.; Goossens, M. :
Mowat-Wilson syndrome. J. Med. Genet. 40: 305-310, 2003.; 4) Zweier, C.; Temple, I. K.; Beemer, F.; Zackai, E.; Lerman-Sagie, T.; Weschke, B.; Anderson, C. E.; Rauch, A. :
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J. Med. Genet. 40: 601-605, 2003.; 5) N Ishihara, K Yamada, N Wakamatsu et al
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1:J Med Genet 2004;41:387?393; 6) Motoko Ohtsuka, Hirokazu Oguni, Mari Matsuo, Makiko Osawa, Kayoko Saito, Yasukazu Yamada, Nobuaki Wakamatsu
Mowat Wilson Sydrome affecting 3 siblings
J Child Neurology 23(3) 274-278, 2008

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