[Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant].
The c.101C>A (p.Ser34Ter) variant of the ASAH1 gene probably underlay the Farber lipogranulomatosis with hydrops fetalis in this fetus. The newly discovered c.101C>A (p.Ser34Ter) variant has enriched the mutational spectrum of Farber lipogranulomatosis.
Authors
- Chunxiao Han
- Lulu Yan (ORCID: https://orcid.org/0000-0002-3402-7637)
- Yingwen Liu (ORCID: https://orcid.org/0000-0001-9315-6845)
- Haibo Li
- Yuxin Zhang (ORCID: https://orcid.org/0000-0003-1900-6712)
Institutions
- Ningbo University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-02-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240910-00482
- Citations
- 1
- Primary Topic
- Cancer and Skin Lesions
- Type
- article
- Field-Weighted Citation Impact
- 2.00