Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Bramswig, Nuria C; Lüdecke, Hermann-Josef; Hamdan, Fadi F; Altmüller, Janine; Beleggia, Filippo; Elcioglu, Nursel H; Freyer, Catharine; Gerkes, Erica H; Demirkol, Yasemin Kendir; Knupp, Kelly G; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H; Michaud, Jacques L; Park, Kristen; Stegmann, Alexander P A; Veenstra-Knol, Hermine E; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M; Kleefstra, Tjitske; Wieczorek, Dagmar.
Hum Genet; 136(7): 821-834, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28393272