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MeSH:(Congenital Disorders of Glycosylation/genetics*)

1.Analysis of SLC35A2 gene variant in a child with congenital disorder of glycosylation type IIm.

Jing LI ; Wenwen WANG ; Qianqian ZHU ; Jingmin SUN

Chinese Journal of Medical Genetics 2021;38(10):989-992

2.Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a.

Ruohao WU ; Kunyin QIU ; Dongfang LI ; Yu LI ; Bingqing DENG ; Xiangyang LUO

Chinese Journal of Medical Genetics 2019;36(4):314-317

3.Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations.

Changhong REN ; Fang FANG ; Yu HUANG ; Hua CHENG ; Lifang DAI

Chinese Journal of Pediatrics 2015;53(12):938-942

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