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A Patient with Primary Hyperparathyroidism Associated with Familial Hypocalciuric Hypercalcemia Induced by a Novel Germline CaSR Gene Mutation

✍ Scribed by Tomonori Yabuta; Akira Miyauchi; Hiroyuki Inoue; Hiroshi Yoshida; Mitsuyoshi Hirokawa; Nobuyuki Amino


Book ID
114339022
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
665 KB
Volume
32
Category
Article
ISSN
0219-3108

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Neonatal severe hyperparathyroidism, sec
✍ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 2 views

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