Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Bryn S MooreJonathan Z LuoAnn N StepanchickTooraj Mirshahi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our comprehensive assessment of all MC1R variants in a large cohort clearly establish that individuals with some missense variants are more susceptible to severe skin disorders than those with MC1R deletions or nonsense variants.

Keyphrases

copy number
soft tissue
wound healing
early onset
intellectual disability
dna methylation
gene expression
autism spectrum disorder