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

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 disomy of...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Cytogenet
Main Authors: Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8101107/
https://ncbi.nlm.nih.gov/pubmed/33952337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00543-4
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