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Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

N IntarakT TheerapanonA SrijunbarlK SuphapeetipornThantrira PorntaveetusV Shotelersuk
Published in: The British journal of dermatology (2018)
Keyphrases
  • early onset
  • genome wide
  • copy number
  • genome wide identification
  • dna methylation
  • genome wide analysis