Article
Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.
American journal of medical genetics - 8 Aug 1997
Cole D E, Janicic N, Salisbury S R, Hendy G N
Abstract excerpt
Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomal-recessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca++-sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypoca...
Topics
- Adult
- Calcium
- Consanguinity
- Female
- Genotype
- Humans
- Hypercalcemia
- Hyperparathyroidism
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Receptors, Cell Surface