Article
Genetic profile of a large Spanish cohort with hypercalcemia.
Frontiers in endocrinology - 1 Jan 2024
García-Castaño Alejandro, Madariaga Leire, Gómez-Conde Sara, González Pedro, Grau Gema, Rica Itxaso, de Nanclares Gustavo Pérez, De la Hoz Ana Belén, Aguayo Aníbal, Martínez Rosa, Urrutia Inés, Gaztambide Sonia, Castaño Luis
Abstract excerpt
Introduction: The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal...
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