COL6A1 内含子变异致Ullrich 先天性肌营养不良1 例报告并文献复习

胡君，林明星，邱鸣琦，等

Ullrich congenital muscular dystrophy caused by COL6A1 intron variation: a case report and literature review

HU Jun, LIN Mingxing, QIU Mingqi, et al

临床儿科杂志 . 2021, (11): 822 - . DOI: 10.3969/j.issn.1000-3606.2021.11.006