Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of <i>SLC34A1</i> and <i>CYP24A1</i>

• Hoofdauteurs: Teofana Otilia Bizerea-Moga (Auteur), Flavia Chisavu (Auteur), Cristina Ilies (Auteur), Orsolya Olah (Auteur), Otilia Marginean (Auteur), Mihai Gafencu (Auteur), Gabriela Doros (Auteur), Ramona Stroescu (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2023-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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 <i>CYP24A1</i> genetic variants and IIH type 2 associated with <i>S...