Lung Transplantation for FLNA -Associated Progressive Lung Disease

Objective To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. Study Design We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initia...

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Veröffentlicht in:	The Journal of pediatrics 2017-07, Vol.186, p.118-123.e6
Hauptverfasser:	Burrage, Lindsay C., MD, PhD, Guillerman, R. Paul, MD, Das, Shailendra, DO, Singh, Shipra, MD, MPH, Schady, Deborah A., MD, Morris, Shaine A., MD, MPH, Walkiewicz, Magdalena, PhD, Schecter, Marc G., MD, Heinle, Jeffrey S., MD, Lotze, Timothy E., MD, Lalani, Seema R., MD, Mallory, George B., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool diffuse lung disease Female Filamins - genetics Humans Hypertension, Pulmonary - etiology Hypertension, Pulmonary - surgery Infant Lung Diseases - genetics Lung Diseases - surgery lung growth disorder Lung Transplantation Pediatrics periventricular nodular heterotopia pulmonary overinflation Respiratory Insufficiency - etiology Respiratory Insufficiency - surgery Retrospective Studies Treatment Outcome
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