A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
โ Scribed by Wael F Elamin, Olivier de Buyl
- Book ID
- 120719122
- Publisher
- BioMed Central
- Year
- 2010
- Tongue
- English
- Weight
- 831 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1752-1947
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๐ SIMILAR VOLUMES
We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individual
Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive 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) hypocalc