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Full exome sequencing of 11 families with Hidradenitis suppurativa.

Peter Theut RiisI C LoftS YazdanyarRune Kjaersgaard AndersenOle Birger Vesterager PedersenHans Christian RingRoland Martin HuberM SultanChristian LoescheDitte Marie Lindhardt SaunteGregor Borut Ernst Jemec
Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
We did not find causative mutation for each family in this study, supporting the theory that HS is rarely caused by single-gene mutations. We suggest that future genetic studies should be focused on genome-wide association with thousands of cases, as this technique is better suited for suspected polygenic diseases.
Keyphrases
  • genome wide association
  • hidradenitis suppurativa
  • copy number
  • single cell
  • pulmonary embolism
  • current status
  • gene expression