Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
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J Med Genet. 2024 Nov 5:jmg-2024-109862. doi: 10.1136/jmg-2024-109862. Online ahead of print.
J Med Genet. 2024.
PMID: 39500555