FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.
Richard M MonaghanRichard W NaylorDaisy FlatmanPaul R KasherSimon G WilliamsBernard D KeavneyPublished in: Cardiovascular research (2024)
Taken together, we identify a pathogenic mechanism for FLT4 variants predisposing to TOF that is distinct from the known dominant negative mechanism of Milroy-causative variants. FLT4 variants give rise to conditions of the two circulatory subdivisions of the vascular system via distinct developmental pleiotropic molecular mechanisms.