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Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.

Jen-Christina SegoviaYu-Chen LinWilson AalaMae Concepcion J DolendoJohn A McGrathChao-Kai HsuBryan Edgar K Guevara
Published in: Clinical and experimental dermatology (2023)
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • gene expression
  • transcription factor