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

• 主要な著者: Teofana Otilia Bizerea-Moga (著者), Flavia Chisavu (著者), Cristina Ilies (著者), Orsolya Olah (著者), Otilia Marginean (著者), Mihai Gafencu (著者), Gabriela Doros (著者), Ramona Stroescu (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2023-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...