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 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
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
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
Mannstadt M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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