RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
RINT1 双等位基因变异导致婴儿复发性急性肝衰竭和骨骼异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.05.011
Margot A Cousin, Erin Conboy, Jian-She Wang, Dominic Lenz, Tanya L Schwab, Monique Williams, Roshini S Abraham, Sarah Barnett, Mounif El-Youssef, Rondell P Graham, Luz Helena Gutierrez Sanchez, Linda Hasadsri, Georg F Hoffmann, Nathan C Hull, Robert Kopajtich, Reka Kovacs-Nagy, Jia-Qi Li, Daniela Ma