Emerging genotype-phenotype relationships in primary ciliary dyskinesia

Steven K. Brennan, Thomas W. Ferkol, Stephanie D. Davis

Research output: Contribution to journalReview articlepeer-review

Abstract

Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.

Original languageEnglish
Article number8272
JournalInternational journal of molecular sciences
Volume22
Issue number15
DOIs
StatePublished - Aug 1 2021

Keywords

  • Genotype-phenotype association
  • Molecular genetics
  • Primary ciliary dyskinesia

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