A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.
作者信息
Fang Hongjun, Zhang Xi, Xiao Bo, Zhang Lily, Long Hongyu
机构信息
Neurology Department, Hunan Children's Hospital, Changsha, China.
Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
出版信息
Neurol Sci. 2021 Jan;42(1):329-331. doi: 10.1007/s10072-020-04559-3. Epub 2020 Jul 10.
PMID:32648047
Abstract
摘要
Zotero 插件