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A novel candidate gene in autosomal dominant facial pruritus.

Bryony A ThompsonKate E DearE DonaldsonRosemary L NixonIngrid M Winship
Published in: Clinical and experimental dermatology (2021)
In the clinical investigation of a family with debilitating centrofacial pruritus by exome sequencing, we have observed a clear segregation of the TRPM3 variant outlined, which is highly suggestive of a causal relationship.
Keyphrases
  • copy number
  • atopic dermatitis
  • genome wide
  • single cell
  • genome wide identification
  • dna methylation
  • transcription factor