Article
Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.
Pediatric allergy, immunology, and pulmonology - 1 Mar 2021
Shah Amit S, Black Emily D, Simon Dawn M, Gambello Michael J, Garber Kathryn B, Iannucci Glen J, Riedesel Erica L, Kasi Ajay S
Abstract excerpt
Background: Interstitial lung disease (ILD) has been recently reported in a few patients with pathogenic variants in the Filamin A (FLNA) gene with variable presentation and prognosis. This study evaluated the respiratory manifestations and clinical features in children with FLNA disease. Methods: We conducted a retrospective review of pediatric patients with variants in FLNA in a tertiary children's hospital....
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