Julia Macintosh Isabelle Thiffault Tomi Pastinen László Sztriha Geneviève Bernard
10.1177/2329048X231176673
Child Neurol Open
2023 May 29;10:2329048X231176673.
eif2ak2 exome sequencing hypomyelination leukodystrophy
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/37284702/
Case Reports
PMC10240855
37284702
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
2023