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

Takahashi, TaikoMercan, SevcanSassa, TakayukiAkçapınar, Günseli BayramYararbaş, KanaySüsgün, Sedaİşeri, Sibel Aylin UğurKihara, AkioAkçakaya, Nihan Hande2022-04-072022-04-072022-04-01Takahashi 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, 2022http://hdl.handle.net/20.500.12645/30511Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.Article10.1016/j.braindev.2022.03.00335379526