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
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region
The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Lee JH et al.
Vitamins and Hormones, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Genetic Disorders of Parathyroid Development and Function.
Gordon RJ et al.
Endocrinology and Metabolism Clinics of North America, 2018
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 novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.
Ertl DA et al.
Bone, 2012
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