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A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia

✍ Scribed by Ksenia N Tonyushkina, Stephen O’Connor, Nancy S Dunbar


Book ID
119907059
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
473 KB
Volume
2012
Category
Article
ISSN
1687-9848

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Neonatal severe hyperparathyroidism, sec
✍ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 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