Article
Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.
Pediatric pulmonology - 1 Jan 2022
Burrage Lindsay C, Heinle Jeffrey S, Cerfolio Robert H, Guillerman Robert P, Patel Kalyani R, Santiago Nahir C, Hoover Wynton C, Mallory George B
Abstract excerpt
Diffuse lung disease in early childhood due to mutations in the filamin A gene has been recently reported. Clinical outcomes vary among individuals indicating variability in phenotype but a substantial proportion of reported cases in early life have ended up in death or lung transplantation. We recently encountered a school-aged child in whom the diagnosis of a filamin A mutation was delayed and the natural...
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