Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
LGI4 是一种参与雪旺细胞髓鞘形成的分泌配体，其功能丧失突变是先天性多发性关节挛缩症的病因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.02.006
Xue Shifeng, Maluenda Jérôme, Marguet Florent, Shboul Mohammad, Quevarec Loïc, Bonnard Carine, Ng Alvin Yu Jin, Tohari Sumanty, Tan Thong Teck, Kong Mung Kei, Monaghan Kristin G, Cho Megan T, Siskind Carly E, Sampson Jacinda B, Rocha Carolina Tesi, Alkazaleh Fawaz, Gonzales Marie, Rigonnot Luc, Whalen Sandra, Gut Marta, Gut Ivo, Bucourt Martine, Venkatesh Byrappa, Laquerrière Annie, Reversade Bruno, Melki Judith
