Article
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
Pediatric pulmonology - 1 Feb 2020
Emiralioğlu Nagehan, Taşkıran Ekim Z, Koşukcu Can, Bilgiç Elif, Atilla Pergin, Kaya Bengisu, Günaydın Önder, Yüzbaşıoğlu Ayşe, Tuğcu Gökçen Dilşa, Ademhan Dilber, Eryılmaz Polat Sanem, Gharibzadeh Hızal Mina, Yalçın Ebru, Doğru Deniz, Kiper Nural, Alikaşifoğlu Mehmet, Özçelik Uğur
Abstract excerpt
BACKGROUND AND OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic,...
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