Publication: Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Program
Authors
Authors
Takahashi, Taiko
Mercan, Sevcan
Sassa, Takayuki
Akçapınar, Günseli Bayram
Yararbaş, Kanay
Süsgün, Seda
İşeri, Sibel Aylin Uğur
Kihara, Akio
Akçakaya, Nihan Hande
Advisor
Language
Type
Publisher
Journal Title
Journal ISSN
Volume Title
Abstract
Description
Source:
Keywords:
Keywords
Citation
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