De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

por Latsko, Maeson S., Koboldt, Daniel C., Franklin, Samuel J., Hickey, Scott E., Williamson, Rachel K., Garner, Shannon, Ostendorf, Adam P., Lee, Kristy, White, Peter, Wilson, Richard K.
Publicado 2022

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

por Hunter, Jesse M., Massingham, Lauren J., Manickam, Kandamurugu, Bartholomew, Dennis, Williamson, Rachel K., Schwab, Jennifer L., Marhabaie, Mohammad, Siemon, Amy, de los Reyes, Emily, Reshmi, Shalini C., Cottrell, Catherine E., Wilson, Richard K., Koboldt, Daniel C.
Publicado 2022