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Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.

Dvir GattInbal Golan TriptoEran LevanonNoga ArwasGuy HazanSoliman AlkrinawiAviv D GoldbartMicha Aviram
Published in: Archives of disease in childhood (2024)
In highly consanguineous regions, a stepwise genetic testing approach is recommended. This approach may be particularly useful in areas where the ability to obtain confirmatory diagnostic tests through other modalities is less accessible.
Keyphrases
  • genome wide
  • copy number
  • gene expression
  • dna methylation