[HTML][HTML] Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
S Martin-Almedina, K Ogmen, E Sackey… - Genetics in …, 2021 - nature.com
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 disease mechanisms at the
molecular level. Methods Ten index cases with various phenotypes, either fetal hydrops, CM …
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 disease mechanisms at the
molecular level. Methods Ten index cases with various phenotypes, either fetal hydrops, CM …
[PDF][PDF] Janus-faced EPHB4-associated disorders
S Martin-Almedina, K Ogmen, E Sackey, D Grigoriadis… - 2021 - pure-oai.bham.ac.uk
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 disease mechanisms at
the molecular level. METHODS: Ten index cases with various phenotypes, either fetal …
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 disease mechanisms at
the molecular level. METHODS: Ten index cases with various phenotypes, either fetal …