Article
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.
Pediatric research - 1 Feb 2021
Slot Evelien, von der Thüsen Jan H, van Heijst Arno, van Marion Ronald, Magielsen Frank, Dubbink Hendrikus J, Post Martin, Debeer Anne, Tibboel Dick, Rottier Robbert J, de Klein Annelies
Abstract excerpt
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal congenital lung disorder associated with heterozygous variants in the FOXF1 gene or its regulatory region. Patients with ACD/MPV unnecessarily undergo invasive and expensive treatments while awaiting a diagnosis. The aim of this study was to reduce the time to diagnose ACD/MPV by developing a targeted...
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