Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome
The c.6696-2 A>C and c.4891C > T:p.Glu1631Ter of the ZNF462 gene likely underlies Weiss-Kruszka syndrome in children (foetus), which enriches the variant spectrum of Chinese patients with Weiss-Kruszka syndrome and provides a basis for prenatal diagnosis and genetic counselling.
Authors
- Chunxiao Han
- Changshui Chen (ORCID: https://orcid.org/0000-0001-5943-9577)
- Haibo Li (ORCID: https://orcid.org/0000-0002-3535-8219)
- Yuxin Zhang (ORCID: https://orcid.org/0009-0004-0736-0815)
Institutions
- Ningbo University (CN)
- Ningbo University Affiliated Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1186/s12920-024-02035-x
- Citations
- 1
- Primary Topic
- Histiocytic Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.33