GM3 synthase deficiency due to <i>ST3GAL5</i> variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype

Jin Sook Lee(Gachon University Gil Medical Center), Jong‐Hee Chae(Seoul National University), Ki Joong Kim(Seoul National University Hospital), Murim Choi(Seoul National University), Junghan Song(Seoul National University Bundang Hospital), Byung Chan Lim(Seoul National University Children's Hospital), Yongjin Yoo(Korea University)
American Journal of Medical Genetics Part A
May 27, 2016
10.1002/ajmg.a.37773
Cited by 58

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