Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Brian C KavanaughJennifer ElacioCarrie R BestDanielle G St PierreMatthew F PescosolidoQing OuyangJohn BiedermannRebecca S BradleyJudy S LiuRichard N JonesEric M Morrow

Published in: Journal of medical genetics (2024)

In this large and longitudinal study of CS, we begin to define the trajectory of symptoms and the adult phenotype thereby identifying critical targets for treatment.

Keyphrases

young adults
physical activity
genome wide
childhood cancer
case report
dna methylation
gene expression
copy number
depressive symptoms
combination therapy
replacement therapy