Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Yosra LajmiLaurence LoeuilletGiulia PetrilliCharles EgloffJuliette NectouxClémence MolacNathalie RouxEmmanuelle PannierAmale AchaiaaZaina Ait ArkoubSophie ChuonAurélie CoussementJean Michel DupontValérie MalanEmmanuel SpaggiariFerechte RazaviJeanne AmielBettina BessièresSarah GrottoTania Attie-BitachPublished in: Birth defects research (2022)
Cystic hygroma/hydrops fetalis are possible manifestations of several disorders. This study illustrates how the integration of exome sequencing in prenatal clinical practice can facilitate the diagnosis and genetic counseling of heterogeneous developmental affections.