[Genetic analysis of a child with Primary hypertrophic osteoarthropathy].
The heterozygous c.218-1304_324+6156del deletion and the c.421+1G>T splicing variant of the HPGD gene probably underlay the pathogenesis in this child. Above finding has enriched the mutational spectrum of the HPGD gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Authors
- Yating Cheng
- Chen Wang
- Jianhong Ma (ORCID: https://orcid.org/0000-0001-6699-8641)
- Boyu Li (ORCID: https://orcid.org/0000-0003-3259-8943)
- Fang Zheng (ORCID: https://orcid.org/0000-0002-2024-2424)
- Yuanzhen Zhang (ORCID: https://orcid.org/0000-0001-5393-290X)
- Xueping Qiu
Institutions
- Wuhan University (CN)
- Zhongnan Hospital of Wuhan University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230628-00400
- Primary Topic
- Hypertrophic osteoarthropathy and related conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00