The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients

KILINÇ SAKALLI A. A., ÇEBİ M. N., Ocak Z., ÇOKUĞRAŞ H. C.

MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, vol.55, no.2, pp.188-192, 2021 (ESCI, TRDizin) identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 2
  • Publication Date: 2021
  • Doi Number: 10.14744/semb.2020.22567
  • Journal Name: MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.188-192
  • Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

Objectives: Primary ciliary dyskinesia (PCD) is a chronic genetic disease that affects the respiratory tract, characterized by different clinical and laboratory features. It has a very difficult diagnosis, and high morbidity. In recent years, with the advances in genetics, the rate of diagnosis has increased considerably. In this study, it was aimed to evaluate the relationship between PCD patients' clinical, radiological and laboratory features and genetic analysis.