Panoramic Variation Analysis of a Family with Neurodevelopmental Disorders Caused by Biallelic Loss-of-function Variants in TMEM141, DDHD2 , and LHFPL5
FRONTIERS OF MEDICINE（2024）
Key words
neurodevelopmental disorder,autosomal recessive intellectual disability,consanguinity,spastic paraplegia,hearing loss,TMEM141
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