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
Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients.
Guesmi A et al.
Biological Research for Nursing, 2021
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
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