Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
SMARCA1 中的致病变异会导致 X 连锁神经发育障碍，该障碍受 NURF 复合物组成调节。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-64838-5
Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo MarÃa, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Å tÄrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J
