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
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
Lee S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
Mitsui T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism.
Tomar N et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Prevalence and significance of NALP5 autoantibodies in patients with idiopathic hypoparathyroidism.
Tomar N et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR et al.
Human Molecular Genetics, 2010
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
Tomar N et al.
European Journal of Endocrinology, 2010
[Calcium-sensing receptor and hypoparathyroidism].
Michigami T
Clinical Calcium, 2007
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