Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
在一个意大利大型家系中，基因定位显示一种新的综合征位于10q23.3-q24.2区域，该综合征表现为双侧白内障、胃食管反流和伴有肌萎缩的痉挛性截瘫。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/302241
Seri, M; Cusano, R; Forabosco, P; Cinti, R; Caroli, F; Picco, P; Bini, R; Morra, V B; De Michele, G; Lerone, M; Silengo, M; Pela, I; Borrone, C; Romeo, G; Devoto, M
