Associated Papers
Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.
Jiang Y et al.
Osteoporosis and Sarcopenia, 2025
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.
Mukhtar N et al.
Frontiers in Endocrinology, 2024
The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Lee JH et al.
Vitamins and Hormones, 2022
Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.
Lee JH et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Genetic Disorders of Parathyroid Development and Function.
Gordon RJ et al.
Endocrinology and Metabolism Clinics of North America, 2018
Successful pregnancies and reduced treatment requirement while breast feeding in a patient with congenital hypoparathyroidism due to homozygous c.68C>A null parathyroid hormone gene mutation.
Dixon J et al.
Bmj Case Reports, 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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