Publications

Title

A novel de novo FEM1C variant as a potential cause of neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia.

Author

Dubey AA, Krygier M, Szulc NA, Rutkowska K, Kosinska J, Pollak A, Rydzanicz M, Kmiec T, Mazurkiewicz-Beldzinska M, Pokrzywa W, Ploski R.

Year

2022

Journal

bioRxiv preprint

Volume

April 24, 2022

Pages

doi: 10.1101/2022.04.24.489208