• "Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation
• A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia
• A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis
• A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the <em>ZEB2</em> Gene
• A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene
• A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle
• A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome
• A Novel Partial Duplication of <em>ZEB2</em> and Review of <em>ZEB2</em> Involvement in Mowat-Wilson Syndrome
• A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome
• A Rare Cause of Intellectual Disability
• Adhesion dynamics in the neocortex determine the start of migration and the post-migratory orientation of neurons
• Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants
• Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant
• Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene
• Analysis of ZEB2 gene variation in two patients with Mowat-Wilson syndrome
• Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients
• Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features
• Clinical and genetic analysis of a patient with Mowat-Wilson syndrome
• Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases
• Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
• Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome
• Clinical Characteristics and Novel <em>ZEB2</em> Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
• Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
• Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
• Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome
• Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?
• Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene
• Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome
• Electrical status epilepticus during sleep in Mowat-Wilson syndrome
• Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
• Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family
• Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing
• First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the <em>ZEB2</em> Gene Observed in Mowat-Wilson Syndrome
• First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
• Functional characterization of the ZEB2 regulatory landscape
• Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
• Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
• Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
• Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent <em>ZEB2</em> variants
• Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants
• Hirschsprung disease
• Human Genetics of Atrial Septal Defect
• Human Genetics of Ventricular Septal Defect
• Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
• Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl
• Identification of the DNA methylation signature of Mowat-Wilson syndrome
• Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome
• Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
• Interstitial Deletion of 2q22.2q22.3 Involving the Entire <em>ZEB2</em> Gene in a Case of Mowat-Wilson Syndrome
• Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome
• Letter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals ()" and the diagnosis of coexisting Mowat-Wilson syndrome in a patient
• Long-term outcome of consecutive case series of congenital isolated agenesis of corpus callosum
• Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes
• Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
• Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation
• Mowat-Wilson syndrome in a Chinese population: A case series
• Mowat-Wilson syndrome presenting with fever-associated seizures
• Mowat-Wilson Syndrome Presenting With Purpura Fulminans
• Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly
• Mowat-Wilson syndrome: Case report
• Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions
• Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
• Mowat-Wilson syndrome: growth charts
• Mutated Transcripts of <em>ZEB2</em> Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
• Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
• Mutation in the Sip1 transcription factor leads to a disturbance of the preconditioning of AMPA receptors by episodes of hypoxia in neurons of the cerebral cortex due to changes in their activity and subunit composition. The protective effects of interleu
• Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
• Neurological Phenotype of Mowat-Wilson Syndrome
• Neuropathology of Mowat-Wilson Syndrome
• Novel <em>STAMBP</em> mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
• Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
• Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
• Outcome of isolated agenesis of the corpus callosum: A population-based prospective study
• Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome
• Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
• Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome
• Prenatal diagnosis of a fetus with Mowat-Wilson syndrome
• Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
• Role of chimeric transcript formation in the pathogenesis of birth defects
• Role of Zeb2/Sip1 in neuronal development
• Sip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex
• Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study
• Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease
• Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant
• Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
• Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples
• Targeted chromatin conformation analysis identifies novel distal neural enhancers of ZEB2 in pluripotent stem cell differentiation
• The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome
• Three Novel <em>De Novo ZEB2</em> Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
• Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
• Transcriptional Regulator ZEB2 Is Essential for Bergmann Glia Development
• Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding
• Use of Foley's catheter as a tourniquet for the management of vascular lesion of lip in Mowat-Wilson syndrome
• Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome
• Zeb2 drives the formation of CD11c + atypical B cells to sustain germinal centers that control persistent infection
• Zeb2 drives the formation of CD11c⁺ atypical B cells to sustain germinal centers that control persistent infection
• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
• Zeb2 regulates the balance between retinal interneurons and Müller glia by inhibition of BMP-Smad signaling
• ZEB2 variation in a patient with Mowat-Wilson syndrome
• ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises