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Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

Luisa BiebachSandra CindrićJulia KoenigIsabella ApreaGerard W DoughertyJohanna RaidtDiana BrachtRenate RuppelJens SchreiberRim HjeijHeike OlbrichHeymut Omran
Published in: American journal of respiratory cell and molecular biology (2022)
Keyphrases
  • intellectual disability
  • muscular dystrophy
  • electron microscopy
  • duchenne muscular dystrophy