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
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism.
Hatabu N et al.
Hormone Research in Paediatrics, 2019
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