Condition: Hypoparathyroidism familial isolated


rs104893959 in GCM2 gene and Hypoparathyroidism familial isolated PMID 20190276 2010 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

PMID 15863676 2005 Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

PMID 20463099 2010 A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

PMID 15728199 2005 GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

PMID 23155703 2012 A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

rs104894271 in PTH gene and Hypoparathyroidism familial isolated PMID 18056632 2007 Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

PMID 10523031 1999 A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.

PMID 2212001 1990 Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.