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Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization
CONTEXT: Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH. OBJECTIVE: Our objectives were to identify the genetic basis for ADH in a multigenerational family and define the underlying disease mec...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Endocrine Society
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4154081/ https://ncbi.nlm.nih.gov/pubmed/24823460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1029 |
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