Novel #IEI due to biallelic variants in the gene coding for Integrin alpha V #ITGAV, incomplete loss of function variants cause neurodevelopmental defects, colitis, and features of #atopy
#pediatricdermatology #genetics #rare diseases

Comments

Posting Rules

  • Be respectful to others
  • No spam or self-promotion
  • Stay on topic
  • Follow Bluesky's terms of service