A novel mutation in the calcium sensing receptor gene in a neonate with severe hyperparathyroidism

Genet Couns. 2014;25(3):331-5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcium / blood
  • Chromosome Aberrations
  • Consanguinity
  • DNA Mutational Analysis*
  • Genes, Dominant / genetics
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Hyperparathyroidism, Primary / diagnosis
  • Hyperparathyroidism, Primary / genetics*
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / genetics*
  • Male
  • Parathyroid Hormone / blood
  • Point Mutation / genetics
  • Receptors, Calcium-Sensing / genetics*

Substances

  • Parathyroid Hormone
  • Receptors, Calcium-Sensing
  • Calcium

Supplementary concepts

  • Hyperparathyroidism, Neonatal Severe Primary