Yazar "Takahashi, Taiko" için listeleme
-
<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akcapinar, Gunseli Bayram; Yararbas, Kanay; Susgun, Seda; Akcakaya, Nihan Hande (Elsevier, 2022)Introduction: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation ...
