GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
GGC 重复扩增和 XYLT1 外显子 1 甲基化是 Baratela-Scott 综合征的常见致病变异
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.11.005
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Kelly Kernan, Candace T Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M Akkari, Katherine M Robbins, Karen W Gripp, Wagner A R Baratela, Michael B Bober, Angela L Duker, Dan Doherty, Jennifer C Dempsey, Danie