Article
Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.
Pediatric pulmonology - 1 Aug 2026
Tabakçı Satı Özkan, Akyan Soydaş Şule Selin, Tuğcu Gökçen Dilşa, Cinel Güzin, Sağdıç Ayşe Ceren, Özçelik Uğur, Can Oksay Sinem, Korkmaz Çiğdem, Zirek Fazılcan, Kekeç Handan, Gülen Figen, Hangül Melih, Özsezen Beste, Altıntaş Derya Ufuk, Çağlar Hanife Tuğçe, Başaran A Erdem, Uyan Zeynep Seda, Özdemir Ali, Ramaslı Gürsoy Tuğba, Yalçın Ebru, Emiralioğlu Nagehan, Girit Saniye, Kılınç Ayşe Ayzıt, Çobanoğlu Nazan, Şişmanlar Eyüboğlu Tuğba, Pekcan Sevgi, Gökdemir Yasemin, Oğuz Berna, Orhan Diclehan, Ceylan Ahmet Cevdet, Kiper Nural
Abstract excerpt
BACKGROUND: Advances in genetic analysis techniques and strategies have enabled the identification of rare novel genetic entities in children's interstitial lung disease (chILD). AIMS: To describe an extensive array of demographic, clinical, radiological, and laboratory data from a national registry of children with diffuse lung disease caused by rare and novel genetic variants. STUDY DESIGN: Retrospective cohort...
Topics
- Humans
- Lung Diseases, Interstitial
- Male
- Retrospective Studies
- Female
- Child, Preschool
- Genetic Variation
- Infant