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Benign Familial Hypocalciuric Hypercalcemia

โœ Scribed by Varghese, Jeena; Rich, Thereasa; Jimenez, Camilo


Book ID
125437474
Publisher
American Association of Clinical Endocrinologists
Year
2011
Tongue
English
Weight
968 KB
Volume
17
Category
Article
ISSN
1530-891X

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CASRdb: calcium-sensing receptor locus-s
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