Associated Papers
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.
Gregory-Evans CY et al.
American Journal of Medical Genetics. Part A, 2004
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
Ishihara N et al.
Journal of Medical Genetics, 2004
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.
Cerruti Mainardi P et al.
Journal of Medical Genetics, 2004
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
Yamada K et al.
American Journal of Human Genetics, 2001
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