Title
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia.
Type
Publication
Author
Dubey AA, Krygier M, Szulc NA, Rutkowska K, Kosińska J, Pollak A, Rydzanicz M, Kmieć T, Mazurkiewicz-Bełdzińska M, Pokrzywa W, Płoski R.
Year
2022
Journal
Human Molecular Genetics
DOI
doi: 10.1093/hmg/ddac276