Article
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
The Journal of clinical investigation - 1 Mar 1994
Pollak M R, Chou Y H, Marx S J, Steinmann B, Cole D E, Brandi M L, Papapoulos S E, Menko F H, Hendy G N, Brown E M
Abstract excerpt
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations (> 15 mg/dl). Many cases have occurred in families with familial hypocalciuric hypercalcemia, a benign condition transmitted as a dominant trait. Among several hypothesized relationships between the two syndromes is the suggestion that neonatal severe hyperparathyroidism is the...
Topics
- Chromosome Mapping
- Female
- Haplotypes
- Humans
- Hypercalcemia
- Hyperparathyroidism
- Male
- Mutation
- Pedigree
- Phenotype