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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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| Veröffentlicht in: | Eur J Endocrinol |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2016
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| Schlagworte: | |
| Online Zugang: | 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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