Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. Am J Med Genet A. 2016 Aug;170(8):2200-5.
PubMed ID:
27232954
Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. Am J Med Genet A. 2016 Aug;170(8):2200-5.