Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Eitemau Tebyg

• Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  gan: Janicic, N, et al.
  Cyhoeddwyd: (1995)
• Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  gan: Bai, M, et al.
  Cyhoeddwyd: (1997)
• Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia.
  gan: Marx, S J
  Cyhoeddwyd: (1982)
• Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia
  gan: Chou, Yah-Huei Wu, et al.
  Cyhoeddwyd: (1995)
• SUN-366 Neonatal Severe Hyperparathyroidism: Extreme Hypercalcemia as a Robust Marker for Homozygous Dosage of Pathogenic CASR Variants
  gan: Marx, Stephen J, et al.
  Cyhoeddwyd: (2020)