Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Han Chunxiao, Yan Lulu, Zhang Yuxin, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS). METHODS: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected. The two children were subjected to whole exome sequencing. Candidate variants...

Topics

Join the communities discussing this publication.

Exome Sequencing
Facies
Genetic Testing
Hirschsprung Disease
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Zinc Finger E-box Binding Homeobox 2

Source

Identifiers

PMID: 39653350
DOI: 10.3760/cma.j.cn511374-20240722-00402

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].PMID 39653350Read ↗

[Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].Semantic proximity Read ↗

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A ReviewSemantic proximity Read ↗

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Semantic proximity Read ↗

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).Semantic proximity Read ↗

Clinical characteristics and novel ZEB2 gene mutation analysis of three Chinese patients with Mowat-Wilson syndromeSemantic proximity Read ↗

[Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].Semantic proximity Read ↗

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular InteractionsSemantic proximity Read ↗

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.Semantic proximity Read ↗

Mowat–Wilson syndrome: an underdiagnosed syndrome?Semantic proximity Read ↗

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.Semantic proximity Read ↗

Neurological Phenotype of Mowat-Wilson Syndrome.Semantic proximity Read ↗

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.