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Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications

Autosomal dominant hypocalcemia type 1 (ADH1) is a disorder of extracellular calcium homeostasis caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR). More than 35% of ADH1 patients have intracerebral calcifications predominantly affecting the basal ganglia. The clini...

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Detalles Bibliográficos
Autores principales:	Elston, Marianne S, Elajnaf, Taha, Hannan, Fadil M, Thakker, Rajesh V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989155/ https://www.ncbi.nlm.nih.gov/pubmed/35402765 http://dx.doi.org/10.1210/jendso/bvac042

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