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

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

24

Citations

21

References

2022

Year

Taiko Takahashi, Sevcan Mercan, Takayuki Sassa, Günseli Bayram Akçapınar, Kanay Yararbaş, Seda Süsgün, Akio Kihara, Nihan Hande Akçakaya

Brain and Development

Mendelian DisorderGenetic DisorderGeneticsSpastic DyskinesiaPathologyMedicineMolecular Medicine

References

	Year	Citations

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