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Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

Zhou YangZhe XuRui HeXin XiangBin ZhangLin Ma
Published in: Pediatric investigation (2023)
We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
Keyphrases
  • young adults
  • genome wide
  • early onset
  • dna methylation
  • combination therapy
  • replacement therapy
  • smoking cessation