Novel compound heterozygous mutations in ganglioside GM3 synthase deficiency

R-X. Liang, H. Zheng, Y-L. Yang

Article ID: 4763
Vol 34, Issue 3, 2020
DOI: https://doi.org/10.23812/19-255-L-67
Received: 9 July 2020; Accepted: 9 July 2020; Available online: 9 July 2020; Issue release: 9 July 2020

Keywords

Ganglioside GM3 synthase;ST3GAL5 gene;intellectual disability;novel compound heterozygous mutations;severe irritability


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