A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism

Lignende værker

• A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report
  af: Ayano Onishi, et al.
  Udgivet: (2025-06-01)
• Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
  af: Ding, Changlin, et al.
  Udgivet: (2001)
• Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
  af: Baumber, L, et al.
  Udgivet: (2005)
• Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
  af: Li, Dong, et al.
  Udgivet: (2018)
• Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
  af: Li, Dong, et al.
  Udgivet: (2017)