Associated Papers
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Nou-Fontanet L et al.
Movement Disorders Clinical Practice, 2024
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
Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations.
Li J et al.
Molecular Vision, 2017
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
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Bourchany A et al.
American Journal of Medical Genetics. Part A, 2015
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Tanteles GA et al.
Clinical Dysmorphology, 2014
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Ghoumid J et al.
Human Molecular Genetics, 2013
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F et al.
Human Mutation, 2007
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
Heinritz W et al.
American Journal of Medical Genetics. Part A, 2006
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 mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0
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