Associated Papers
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Caraffi SG et al.
European Journal of Human Genetics : Ejhg, 2024
38351292 (PubMed )
Supplement: 41431_2024_1548_MOESM1_ESM.pdf
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.
Fu Y et al.
Frontiers in Genetics, 2022
35646055 (PubMed )
Supplement: DataSheet1.xls › All_the_ZEB2_variants
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Cordelli DM et al.
American Journal of Medical Genetics. Part A, 2013
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2009
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F et al.
Human Mutation, 2007
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
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
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2003
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0
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