A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51131
Abstract: To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. read more here.
Keywords: hypomorphic splice; novel hypomorphic; eif2b5 gene; splice variant ... See more keywords
Epilepsy and ovarian failure: Two cases of adolescent-onset ovarioleukodystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2017.12.027
Abstract: Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of… read more here.
Keywords: epilepsy ovarian; two cases; failure two; failure ... See more keywords