Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Nina Lenherr-TaubeEdwin J YoungMichelle FurmanYesmino EliaEsther AssorDavid ChitayatTami UsterSusan KirwinKatherine RobbinsKathleen M B VinetteAlan DanemanChristian R MarshallCarol CollinsKenneth ThummelEtienne SochettMichael A Levine

Published in: The Journal of clinical endocrinology and metabolism (2021)

The milder form of IIH has a distinctive vitamin D metabolite profile and is primarily associated with heterozygous SLC34A1 and SLC34A3 variants.

Keyphrases

copy number
early onset
genome wide
dna methylation
gene expression