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Familial benign hypocalciuric hypercalcemia and neonatal hyperparathyroidism

โœ Scribed by Ghada El-Hajj Fuleihan; Edward M. Brown

Book ID
111635420
Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
101 KB
Volume
1
Category
Article
ISSN
1534-8644

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CASRdb: calcium-sensing receptor locus-s
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
โœ Svetlana Pidasheva; Lilia D'Souza-Li; Lucie Canaff; David E.C. Cole; Geoffrey N. ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 217 KB

Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), in which the lifelong hypercalcemia is generally asymptomatic. Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT), a