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Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with recessive dystrophic epidermolysis bullosa pruriginosa and digestive symptoms successfully treated with tofacitinib.

Xing-Li ZhouJia GengMinjin WangJinlin YangJian ZouWei Li
Published in: The Journal of dermatology (2023)
Keyphrases
  • rheumatoid arthritis
  • case report
  • early onset
  • copy number
  • genome wide
  • ulcerative colitis
  • sleep quality
  • genome wide identification
  • muscular dystrophy
  • dna methylation
  • autism spectrum disorder
  • genome wide analysis