A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Genetics in Medicine, Published online: 20 January 2021; doi:10.1038/s41436-020-01071-zA pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Source: Genetics in Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Min Ni Bushra Afroze Chao Xing Chunxiao Pan Yanqiu Shao Ling Cai Brandi L. Cantarel Jimin Pei Nick V. Grishin Stacy Hewson Devon Knight Sonal Mahida Donnice Michel Mark Tarnopolsky Annapurna Poduri Alexander Rotenberg Neal Sondheimer Ralph J. DeBerardinis Source Type: research