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loss-of-function mutation as a rare cause of parathyroid (PTH)-independent severe hypercalcaemia in pregnancy.

作者信息

Morton Adam

机构信息

Obstetric Medicine and Endocrinology, Mater Health, South Brisbane, Australia.

出版信息

Obstet Med. 2025 Aug 4:1753495X251349953. doi: 10.1177/1753495X251349953.

Abstract
摘要

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本文引用的文献

1
A rare example of humoral-related hypercalcaemia in pregnancy secondary to a uterine fibroid: a case report.
Obstet Med. 2025 Apr 11:1753495X251326130. doi: 10.1177/1753495X251326130.
2
Case report: Non-PTH-dependent hypercalcemia in pregnancy: Consider CYP24A1 mutations.
Ann Endocrinol (Paris). 2023 Dec;84(6):758-760. doi: 10.1016/j.ando.2023.05.009. Epub 2023 Jun 13.
4
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3159-e3166. doi: 10.1210/clinem/dgac315.
5
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Eur J Endocrinol. 2021 Dec 10;186(2):137-149. doi: 10.1530/EJE-21-0713.

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