Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1. - SÜSGÜN, SEDA; Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akçapınar, Günseli Bayram; Yararbaş, Kanay; Süsgün, Seda; İşeri, Sibel Aylin Uğur; Kihara, Akio; Akçakaya, Nihan Hande (My University, 2022)