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...

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Autors principals: Li, Dong, Opas, Evan E., Tuluc, Florin, Metzger, Daniel L., Hou, Cuiping, Hakonarson, Hakon, Levine, Michael A.
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2014
Matèries:
JCEM Online: Advances in Genetics
Accés en línia: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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