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
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.
Lee JH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
Horev L et al.
Experimental Dermatology, 2005
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