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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 o...

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Detalles Bibliográficos
Autores principales: Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040864/
https://www.ncbi.nlm.nih.gov/pubmed/31961795
http://dx.doi.org/10.1530/EC-19-0478