[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
By combining their clinical features and results of genetic testing, both children had been diagnosed with MWS due to variants of the ZEB2 gene. Above findings have enriched the mutational spectrum of MWS and provided a basis for the prenatal diagnosis and genetic counseling.
Authors
- Chunxiao Han
- Lulu Yan (ORCID: https://orcid.org/0000-0002-3402-7637)
- Haibo Li (ORCID: https://orcid.org/0000-0002-3535-8219)
- Yuxin Zhang (ORCID: https://orcid.org/0000-0001-7224-2533)
Institutions
- Ningbo University (CN)
- Ningbo Center for Disease Control and Prevention (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240722-00402
- Primary Topic
- Congenital gastrointestinal and neural anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00