Novel Loss of Function Variant in <scp><i>SOST</i></scp> From Chinese Family Results in Sclerosteosis 1
The report presents new evidence for the clinical diagnosis of SOST-related facial numbness and expands the variant spectrum of SOST.
Authors
- Bijun Zhang (ORCID: https://orcid.org/0000-0002-7596-3376)
- Xintao Wu (ORCID: https://orcid.org/0000-0002-2823-3063)
- Yuting Jin (ORCID: https://orcid.org/0000-0002-4336-2680)
- Jianhua Feng (ORCID: https://orcid.org/0000-0002-5849-407X)
- Xin Lin (ORCID: https://orcid.org/0000-0002-1563-8168)
- Chudi Zhang (ORCID: https://orcid.org/0000-0002-0839-3908)
- Ye Wang (ORCID: https://orcid.org/0000-0002-2608-368X)
- Yuting Lou
- Pu Miao (ORCID: https://orcid.org/0000-0001-5165-2613)
- Yufan Guo (ORCID: https://orcid.org/0000-0002-1527-0383)
- Yu Gu (ORCID: https://orcid.org/0000-0003-3825-6557)
Institutions
- Second Affiliated Hospital of Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1002/mgg3.70109
- Primary Topic
- Bone health and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Science and Technology Department of Zhejiang Province