Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by in...

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Detalhes bibliográficos
Publicado no:Korean J Pediatr
Main Authors: Choi, Keun Hee, Shin, Choong Ho, Yang, Sei Won, Cheong, Hae Il
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4414630/
https://ncbi.nlm.nih.gov/pubmed/25932037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2015.58.4.148
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