Associated Papers
Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.
Jiang Y et al.
Osteoporosis and Sarcopenia, 2025
Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.
Höppner J et al.
Current Opinion in Nephrology and Hypertension, 2024
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.
Mukhtar N et al.
Frontiers in Endocrinology, 2024
Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.
Andersen SL et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
Gild ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.
Lee JH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque L et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
Lee S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
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