Associated Papers
Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2024
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Nou-Fontanet L et al.
Movement Disorders Clinical Practice, 2024
Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
St Peter C et al.
International Journal of Molecular Sciences, 2024
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK et al.
Genes, 2023
38003033 (PubMed )
Supplement: genes-14-02091-s001.zip › genes-2581930-supplementary › Supplemental.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
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Frith K et al.
International Journal of Molecular Sciences, 2021
Corpus callosum abnormalities: neuroradiological and clinical correlations.
Al-Hashim AH et al.
Developmental Medicine and Child Neurology, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Babkina N et al.
European Journal of Medical Genetics, 2016
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2014
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Ghoumid J et al.
Human Molecular Genetics, 2013
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