Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.

Stine Linding AndersenAnja Lisbeth FrederiksenAstrid Bruun RasmussenMette MadsenAnn-Margrethe Rønholt Christensen

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)

as a cause of hypoparathyroidism are rarely described. In this case, the child was asymptomatic, and discordant PTH results were seen with different assays.

Keyphrases

mental health
high throughput
intellectual disability
early onset
autism spectrum disorder