Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

por Olivieri, Daniel J., Massingham, Lauren J., Schwab, Jennifer L., Quintos, Jose Bernardo
Publicado 2021

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