Novel NGLY1 gene variants in Chinese children with global...

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Journal of Human Genetics 2020 / 1

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

Abuduxikuer, Kuerbanjiang, Zou, Lin, Wang, Lei, Chen, Li, Wang, Jian-She
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Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/s10038-019-0719-9
Date:
January, 2020
File:
PDF, 1.69 MB
english, 2020
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