Associated Papers
A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report.
Onishi A et al.
Frontiers in Endocrinology, 2025
Hypoparathyroidism: Genetics and Diagnosis.
Mannstadt M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Search for Novel Mutational Targets in Human Endocrine Diseases.
Park SY et al.
Endocrinology and Metabolism (seoul, Korea), 2019
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
Park SY et al.
Journal of Korean Medical Science, 2013
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
Yi HS et al.
Clinical Endocrinology, 2012
A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.
Doyle D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
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