When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria ...

Source: Molecular Cytogenetics - May 5, 2021 Category: Molecular Biology Authors: Marguerite Hureaux, Sandra Chantot-Bastaraud, K évin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou and Anne-Claire Bréhin Tags: Case Report Source Type: research