[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].
This study has expanded the mutational spectrum of the KMT2D gene. Prenatal ultrasound findings of KS lack specificity, though multi-system anomalies or specific soft markers may indicate KS. WES is an effective tool for the diagnosis, and KS should be included in the differential diagnosis list for prenatal cardiac and renal abnormalities.
Authors
- Jieping Song (ORCID: https://orcid.org/0000-0001-5926-9037)
- Yayun Qin
Institutions
- Hubei Provincial Women and Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-08-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20250617-00374
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00