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Neonatal severe hyperparathyroidism: An important clue to the aetiology

โœ Scribed by Michael T Gabbett; Kristi Jones; Christopher T Cowell; David O Sillence; Meredith J Wilson

Book ID
108955124
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
133 KB
Volume
42
Category
Article
ISSN
1034-4810

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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

An acceptor splice site mutation in the
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
โœ Dsouza-Li, Lilia (author);Canaff, Lucie (author);Janicic, Natasa (author);Cole, ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 595 KB

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