Article
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021
Martin-Almedina Silvia, Ogmen Kazim, Sackey Ege, Grigoriadis Dionysios, Karapouliou Christina, Nadarajah Noeline, Ebbing Cathrine, Lord Jenny, Mellis Rhiannon, Kortuem Fanny, Dinulos Mary Beth, Polun Cassandra, Bale Sherri, Atton Giles, Robinson Alexandra, Reigstad Hallvard, Houge Gunnar, von der Wense Axel, Becker Wolf-Henning, Jeffery Steve, Mortimer Peter S, Gordon Kristiana, Josephs Katherine S, Robart Sarah, Kilby Mark D, Vallee Stephanie, Gorski Jerome L, Hempel Maja, Berland Siren, Mansour Sahar, Ostergaard Pia
Abstract excerpt
PURPOSE: Several clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding new approaches for deciphering pathogenesis of novel variants of uncertain significance (VUS) identified in EPHB4, and for the identification of differentiated...
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