Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Silvia Martin-AlmedinaKazim OgmenEge OzkanDionysios GrigoriadisChristina KarapouliouNoeline NadarajahCathrine EbbingJenny LordRhiannon MellisFanny KortuemMary Beth DinulosCassandra PolunSherri BaleGiles AttonAlexandra RobinsonHallvard ReigstadGunnar HougeAxel von der WenseWolf-Henning BeckerSteve JefferyPeter S MortimerKristiana GordonKatherine S JosephsSarah RobartMark David KilbyStephanie ValleeJerome L GorskiMaja HempelSiren BerlandShehla MohammedPia OstergaardPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This study highlights the usefulness of protein expression and subcellular localization studies to predict EPHB4 variant pathogenesis. Our accurate clinical phenotyping expands our interpretation of the Janus-faced spectrum of EPHB4-related disorders, introducing the discovery of cases with overlapping phenotypes.