Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Autor: Snijders Blok, Lot *, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiago-Sim, Teresa, Si, Yue, Brunner, Han G., Kleefstra, Tjitske, Fisher, Simon E. *
Zdroj: In Genetics in Medicine March 2021 23(3):534-542
Databáze: ScienceDirect