正文
《医学前沿(英文)》 >> 2024年 第18卷 第1期 doi: 10.1007/s11684-023-1006-x
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and
摘要
关键词
neurodevelopmental disorder ; autosomal recessive intellectual disability ; consanguinity ; spastic paraplegia ; hearing loss ; TMEM141
正文