- Tytuł:
- Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
- Autorzy:
- Źródło:
-
Orphanet journal of rare
diseases [Orphanet J Rare Dis] 2024 Mar 19; Vol. 19 (1), pp. 126. Date of Electronic Publication: 2024 Mar 19. - Typ publikacji:
- Journal Article
- MeSH Terms:
-
Hypercalcemia*/genetics
Infant ,Newborn ,Diseases *
Metabolism, Inborn Errors*
Nephrocalcinosis*/genetics
Child ; Humans ; Hypercalciuria/genetics ; Mutation/genetics ; Retrospective Studies ; Sodium-Phosphate Cotransporter Proteins, Type IIa/genetics ; Vitamin D3 24-Hydroxylase/genetics ; Vitamin D3 24-Hydroxylase/metabolism - SCR Disease Name:
- Hypercalcemia, Idiopathic, of Infancy
Czasopismo naukowe