Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report
Structural and functional analyses provide mechanistic insights into the variant's pathogenicity, highlighting <i>HNRNPK</i>'s role in fetal development. These findings advocate for integrating genomic and phenotypic data to improve prenatal diagnosis of rare genetic syndromes.
Authors
- Hongmei Zhou (ORCID: https://orcid.org/0000-0002-3947-2166)
- Ke Wu (ORCID: https://orcid.org/0000-0002-7195-9601)
- Zhen Yang (ORCID: https://orcid.org/0000-0002-9314-3590)
- Junying He
- Yuying Zhu (ORCID: https://orcid.org/0000-0003-2045-8687)
- Qiumin Zhu
Institutions
- BGI Group (China) (CN)
- Quzhou City People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-26
- DOI
- https://doi.org/10.3389/fgene.2025.1661743
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00