Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affect...

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Detalles Bibliográficos
Autores principales: Bizerea-Moga, Teofana Otilia, Chisavu, Flavia, Ilies, Cristina, Olah, Orsolya, Marginean, Otilia, Gafencu, Mihai, Doros, Gabriela, Stroescu, Ramona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605249/
https://www.ncbi.nlm.nih.gov/pubmed/37892364
http://dx.doi.org/10.3390/children10101701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605249/
https://www.ncbi.nlm.nih.gov/pubmed/37892364
http://dx.doi.org/10.3390/children10101701

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