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

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

Abstract Background 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 and nephrocalcinosis in paediatric patients. Maternal uniparental di...

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Bibliographic Details
Main Authors: Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Molecular Cytogenetics
Subjects:
Uniparental disomy of chromosome 20
Infantile hypercalcemia
CYP24A1
Silver-Russell-like syndrome
Online Access:https://doi.org/10.1186/s13039-021-00543-4

Internet

https://doi.org/10.1186/s13039-021-00543-4

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