Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
In this study, two novel RVs of <i>PTH (</i>Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the <i>PTH</i> and shed light on potential mechanisms underlying FIH.
Authors
- Min Nie (ORCID: https://orcid.org/0000-0001-7179-0044)
- Xiaoping Xing (ORCID: https://orcid.org/0000-0002-2759-5177)
- Weibo Xia (ORCID: https://orcid.org/0000-0001-7768-5536)
- Xinqi Cheng (ORCID: https://orcid.org/0000-0001-8228-5078)
- Yan Jiang (ORCID: https://orcid.org/0000-0003-4434-3462)
- An Song (ORCID: https://orcid.org/0000-0001-6572-1827)
- Mei Li (ORCID: https://orcid.org/0000-0001-7270-4902)
- Jiajia Wang (ORCID: https://orcid.org/0000-0001-6805-1611)
- Yue Jiang (ORCID: https://orcid.org/0000-0003-0547-2595)
- Ou Wang (ORCID: https://orcid.org/0000-0002-0395-8789)
- Jing Yang (ORCID: https://orcid.org/0000-0003-2021-3065)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Henan University Huaihe Hospital and Huaihe Clinical Institute (CN)
Publication Details
- Journal
- Osteoporosis and Sarcopenia
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1016/j.afos.2025.02.001
- Citations
- 1
- Primary Topic
- Thyroid and Parathyroid Surgery
- Type
- article
- Field-Weighted Citation Impact
- 2.01