Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation...

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Bibliografiske detaljer
Udgivet i:Endocrinol Diabetes Metab Case Rep
Main Authors: Taki, Katsumi, Kogai, Takahiko, Sakumoto, Junko, Namatame, Takashi, Hishinuma, Akira
Format: Artigo
Sprog:Inglês
Udgivet: Bioscientifica Ltd 2015
Fag:
Unique/Unexpected Symptoms or Presentations of a Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4439728/
https://ncbi.nlm.nih.gov/pubmed/26019872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0016
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