Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Masamune SakamotoToshihide ShiikiShuji MatsuiNobuhiko OkamotoEriko KoshimizuNaomi TsuchidaYuri UchiyamaKohei HamanakaAtsushi FujitaSatoko MiyatakeKazuharu MisawaTakeshi MizuguchiNaomichi MatsumotoPublished in: Journal of human genetics (2023)
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