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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Case Report
Acesso em linha: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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