Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty
Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang, Li Chen, Jian‐She Wang
Topics & Concepts
Missense mutationMicrocephalyGlobal developmental delayHypotoniaGeneticsBiologyFrameshift mutationMedicinePhenotypeBioinformaticsGeneGenetics and Neurodevelopmental DisordersAdenosine and Purinergic SignalingEndoplasmic Reticulum Stress and Disease