Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.
Peiwei ZhaoXiankai ZhangZhengrong DuanChunhui WanLei ZhangSukun LuoHongmin ZhuXuelian He
Published in: Seizure (2024)
Our findings not only expand the clinical and variant spectrum of ALG11-CDG, but also emphasize the importance of WES as a first-tier genetic test in determining the molecular diagnosis.