Article
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
The Journal of clinical endocrinology and metabolism - 1 Sept 2014
Li Dong, Opas Evan E, Tuluc Florin, Metzger Daniel L, Hou Cuiping, Hakonarson Hakon, Levine Michael A
Abstract excerpt
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 mechanism. SUBJECTS: Here we evaluated a multigenerational family with ADH in which affected subjects had normal...
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