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

• Main Authors: Teofana Otilia Bizerea-Moga (Author), Flavia Chisavu (Author), Cristina Ilies (Author), Orsolya Olah (Author), Otilia Marginean (Author), Mihai Gafencu (Author), Gabriela Doros (Author), Ramona Stroescu (Author)
• Format: Book
• Published: MDPI AG, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...