Login / Signup

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