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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1

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dc.contributor.authorTakahashi, Taiko
dc.contributor.authorMercan, Sevcan
dc.contributor.authorSassa, Takayuki
dc.contributor.authorAkcapinar, Gunseli Bayram
dc.contributor.authorYararbas, Kanay
dc.contributor.authorSusgun, Seda
dc.contributor.authorIseri, Sibel Aylin Ugur
dc.contributor.authorKihara, Akio
dc.contributor.authorAkcakaya, Nihan Hande
dc.date.accessioned2025-10-16T15:17:30Z
dc.date.issued2022
dc.identifier.doi10.1016/j.braindev.2022.03.003
dc.identifier.otherWOS:000802981700005
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6946
dc.publisherELSEVIER
dc.sourceBRAIN \& DEVELOPMENT
dc.subjectCeramide
dc.subjectELOVL1
dc.subjectExon skipping
dc.subjectAutosomal recessive
dc.subjectHypomyelinating
dc.subjectIchthyosis
dc.subjectCerebral palsy
dc.title<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
dc.typeArticle

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