钙黏蛋白编码基因19基因突变致仅限女性的癫痫伴智力低下2例
PCDH19 gene mutations lead to epilepsy with mental
retardation limited to females in 2 cases and
literature review
DOI: 10.11817/j.issn.1672-7347.2017.06.021
羊蠡,
Ahmed Arafat,
彭镜,
陈晨,
马玉平,
尹飞
YANG Li,
Ahmed Arafat,
PENG Jing,
CHEN Chen,
MA Yuping,
YIN Fei
Keywords: 限于女性的癫痫伴智力低下,钙黏蛋白编码基因19,Dravet 综合征,新发突变,
epilepsy and mental retardation limited to females,protocadherin 19,Dravet syndrome,de novo
mutation
Abstract:
Full-Text