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

• Prif Awduron: Teofana Otilia Bizerea-Moga (Awdur), Flavia Chisavu (Awdur), Cristina Ilies (Awdur), Orsolya Olah (Awdur), Otilia Marginean (Awdur), Mihai Gafencu (Awdur), Gabriela Doros (Awdur), Ramona Stroescu (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2023-10-01T00:00:00Z.
• Pynciau: article
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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...