Open AccessAutosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization
Author(s) -
Li Dong,
Evan E. Opas,
Florin Tuluc,
Daniel L. Metzger,
Cuiping Hou,
Hákon Hákonarson,
Michael A. Levine
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2014-1029
Subject(s) - biology , hypercalciuria , endocrinology , hypoparathyroidism , medicine , calcium sensing receptor , mutation , exome sequencing , genetics , parathyroid hormone , calcium , gene , urinary system
Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH.
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