Associated Papers
Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.
Ju Y et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 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
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Schuster J et al.
Frontiers in Molecular Neuroscience, 2022
Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.
Wu L et al.
Frontiers in Genetics, 2022
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A et al.
Journal of Applied Genetics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
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
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
Schuster J et al.
Stem Cell Research, 2019
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
Teraishi M et al.
Scientific Reports, 2017
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Bourchany A et al.
American Journal of Medical Genetics. Part A, 2015
Mowat-Wilson syndrome: neurological and molecular study in seven patients.
Paz JA et al.
Arquivos De Neuro-psiquiatria, 2015
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y et al.
American Journal of Medical Genetics. Part A, 2014
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Tanteles GA et al.
Clinical Dysmorphology, 2014
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.
Saunders CJ 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
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
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.
Horn D et al.
American Journal of Medical Genetics. Part A, 2004
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M 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
Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.
Suchi M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0