Article
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Annals of the American Thoracic Society - 1 Nov 2022
Keppler-Noreuil Kim M, Burton-Akright Jasmine, Kleiner David E, Sapp Julie C, Lindhurst Marjorie J, Han Chen G, Biesecker Leslie G, Gochuico Bernadette R
Abstract excerpt
Rationale: Limited information is available regarding cystic lung disease in Proteus syndrome, a rare overgrowth disorder caused by a somatic activating variant in AKT1. Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Methods: Medical records, pulmonary function tests, and chest computed tomography of 39 individuals with Proteus syndrome evaluated at a single center were...
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