Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Jared Spencer RosenblumAnthony J CappadonaDavis P ArgersingerYing PangHerui WangMatthew A NazariJeeva P MunasingheDanielle R DonahueAbhishek JhaJames G SmirniotopoulosMarkku M MiettinenRussell H KnutsenBeth A KozelZhengping ZhuangKarel PacakJohn D HeissPublished in: Neurology. Genetics (2020)
This study characterized posterior fossa and spinal malformations seen in EPAS1 gain-of-function syndrome and suggests that gain-of-function mutation in HIF-2α results in improper mesenchymal transition.