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
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A et al.
Scientific Reports, 2021
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
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
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
Mirczuk SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Fahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome.
Li J et al.
Aace Endocrinology and Diabetes, 0
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