A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cömert C, Brick L, Ang D, Palmfeldt J, Meaney BF, Kozenko M, Georgopoulos C, Fernandez-Guerra P, Bross P.
Cömert C, et al. Among authors: palmfeldt j.
Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a004879. doi: 10.1101/mcs.a004879. Print 2020 Jun.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 32532876
Free PMC article.
Review.