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Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 1 is caused by activating mutations in the calcium-sensing receptor (CASR), a G-protein-coupled receptor signaling through α(11) (Gα(11)) and α(q) (Gα(q)) subunits....

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Publicat a:Eur J Endocrinol
Autors principals: Tenhola, Sirpa, Voutilainen, Raimo, Reyes, Monica, Toiviainen-Salo, Sanna, Jüppner, Harald, Mäkitie, Outi
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149394/
https://ncbi.nlm.nih.gov/pubmed/27334330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-16-0109
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