Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Hypoparathyroidism is genetically heterogeneous and characterized by low plasma calcium and parathyroid hormone (PTH) concentrations. X-linked hypoparathyroidism (XLHPT) in two American families is associated with interstitial deletion- insertions involving deletions of chromosome Xq27.1 downstream...

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Main Authors: Katherine U Gaynor, Irina V Grigorieva, Samantha M Mirczuk, Sian E Piret, Kreepa G Kooblall, Mark Stevenson, Karine Rizzoti, Michael R Bowl, M Andrew Nesbit, Paul T Christie, William D Fraser, Tertius Hough, Michael P Whyte, Robin Lovell-Badge, Rajesh V Thakker
Format: Article
Language:English
Published: Bioscientifica 2020-02-01
Series:Endocrine Connections
Subjects:
Online Access:https://ec.bioscientifica.com/view/journals/ec/9/2/EC-19-0478.xml