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A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

INTRODUCTION: Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with fa...

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Detalles Bibliográficos
Autores principales: Elamin, Wael F, de Buyl, Olivier
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/
https://www.ncbi.nlm.nih.gov/pubmed/21034470
http://dx.doi.org/10.1186/1752-1947-4-349