目的:对1例癫痫伴全面性发育落后患儿的临床特征及n ZBTB18基因变异进行分析，明确其可能的致病原因，为临床诊断提供依据。n ......

Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-l......

NRXN1 microdeletions occur at relatively high frequency and confer increased risk for neurodevelopmental and neurobehavi......

Phelan-McDermid综合征(Phelan-McDermid syndrome，PMS)(OMIM#606232)是由22号染色体长臂末端缺失引起的较为罕见遗传性疾病，其临床......