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Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.

Natsuki YamaguchiYukiko KiniwaRyota HayashiRiichiro AbeShiho KatsuieRyuhei Okuyama
Published in: The Journal of dermatology (2023)
Keyphrases
  • early onset
  • intellectual disability
  • genome wide
  • copy number
  • autism spectrum disorder
  • transcription factor