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, cilt.55, sa.2, ss.188-192, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.14744/semb.2020.22567
  • Dergi Adı: MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.188-192
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.