Title: A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia.
Authors: Dubey AA, Krygier M, Szulc NA, Rutkowska K, Kosinska J, Pollak A, Rydzanicz M, Kmiec T, Mazurkiewicz-Beldzinska M, Pokrzywa W, Ploski R
Journal: Hum Mol Genet
Published: 2022-11-07