A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
复发性纯合EMC10移码变异与一种发育迟缓综合征相关，该综合征伴有不同程度的癫痫发作和畸形特征。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01097-x
Shao, Diane D; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R Sean; Smith, Richard S; Majmundar, Amar J; Ameziane, Najim; Neil, Jennifer E; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S; Schlaeger, Thorsten M; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z; Rento, Lariza M; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A
