A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia.
| Type | Publication |
|---|---|
| Authors | Dubey AA, Krygier M, Szulc NA, Rutkowska K, Kosińska J, Pollak A, Rydzanicz M, Kmieć T, Mazurkiewicz-Bełdzińska M, Pokrzywa W, Płoski R. |
| Year | 2023 |
| Journal | Hum Mol Genet. |
| Volume | 32(7):1152-1161 |
| Pages | 10.1093/hmg/ddac276 |
| Source | Full text / source → |