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Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing
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Abstract
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 next-generation sequencing (NGS) panel
that detects FOXF1 variants.