Publication: Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
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Mercan, Sevcan
Sassa, Takayuki
Akçapınar, Günseli Bayram
Yararbaş, Kanay
Süsgün, Seda
İşeri, Sibel Aylin Uğur
Kihara, Akio
Akçakaya, Nihan Hande
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Takahashi T., Mercan S., Sassa T., Akçapınar G. B. , Yararbaş K., Süsgün S., İşeri S. A. U. , Kihara A., Akçakaya N. H. , -Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.-, Brain & development, 2022