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Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.

Nicole CesaratoMaria WehnerMariam GhughunishviliAxel SchmidtDaisy AxtHolger ThieleMichael J LentzeCristina HasMatthias GeyerFitnat Buket BasmanavRegina C Betz
Published in: American journal of medical genetics. Part A (2021)
Keyphrases
  • copy number
  • genome wide
  • case report
  • genome wide identification
  • dna methylation
  • gene expression
  • genome wide analysis