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Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.

Kotoe MaeYoshio KawakamiAi KajitaTakuya TakeichiTatsuhiro NodaYoji HiraiMasashi AkiyamaShin Morizane
Published in: The Journal of dermatology (2022)
Keyphrases
  • intellectual disability
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • transcription factor
  • genome wide analysis