Associated Papers
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
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
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M et al.
American Journal of Medical Genetics. Part A, 2003
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
Cacheux V et al.
Human Molecular Genetics, 2001
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0
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