Article
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
Yonsei medical journal - 1 May 2017
Ma Youngeun, Jang Mi Ae, Yoo Hye Soo, Ahn So Yoon, Sung Se In, Chang Yun Sil, Ki Chang Seok, Park Won Soon
Abstract excerpt
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of...
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