Abuduxikuer K, Zou L, Wang L, Chen L, Wang J. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. Journal of Human Genetics. 2020 Jan 21;65(4):387–96. doi: 10.1038/s10038-019-0719-9.
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty