Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities
FMR1型
智力残疾
脆性X综合征
错义突变
遗传学
表型
胡说
心理学
生物
基因
脆性x
作者
Giuseppe Donato Mangano,Antonina Fontana,Vincenzo Salpietro,Vincenzo Antona,Giuseppa Renata Mangano,Rosaria Nardello