Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
We described the incidence of D-BPD in a Chinese neonate caused by novel biallelic pathogenic variants in <i>HSD17B4</i>, which expands its mutational spectrum.
Authors
- Hongfang Ding (ORCID: https://orcid.org/0000-0002-8603-824X)
- Lianjun Gao (ORCID: https://orcid.org/0009-0007-7025-6801)
- Yizhong Wang (ORCID: https://orcid.org/0000-0002-9390-8864)
- Hui Wang (ORCID: https://orcid.org/0000-0002-6260-9511)
- G. Liu (ORCID: https://orcid.org/0000-0002-6272-806X)
- Hui Liu (ORCID: https://orcid.org/0009-0003-3273-6979)
Institutions
- Shanghai Jiao Tong University (CN)
- Shengli Oilfield Central Hospital (CN)
- Shanghai Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-05
- DOI
- https://doi.org/10.3389/fgene.2025.1631767
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 0.00