Ontology highlight
ABSTRACT:
SUBMITTER: Burrage LC
PROVIDER: S-EPMC5534178 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Burrage Lindsay C LC Guillerman R Paul RP Das Shailendra S Singh Shipra S Schady Deborah A DA Morris Shaine A SA Walkiewicz Magdalena M Schecter Marc G MG Heinle Jeffrey S JS Lotze Timothy E TE Lalani Seema R SR Mallory George B GB
The Journal of pediatrics 20170428
<h4>Objective</h4>To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation.<h4>Study design</h4>We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure.<h4>Results</h4>Each patient received lung transplantation at an average age of 11 months (range, 5-15 months). All patients ...[more]