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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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Detalles Bibliográficos
Autores principales:	Choi, Keun Hee, Shin, Choong Ho, Yang, Sei Won, Cheong, Hae Il
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414630/ https://www.ncbi.nlm.nih.gov/pubmed/25932037 http://dx.doi.org/10.3345/kjp.2015.58.4.148

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