학술논문
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Document Type
Short Communication
Author
Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt, J Lawrence, II; Muller, Eric, II; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonović, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Juusola, Jane; Yang, Jun
Source
In The American Journal of Human Genetics 4 April 2024 111(4):778-790
Subject
Language
ISSN
0002-9297