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De novo missense variants in exon 9 of SEPHS1 cause a neuro..:
Mullegama, Sureni V.
;
Kiernan, Kaitlyn A.
;
Torti, Erin
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2024.05.004
RT Journal T1
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2024.05.004&Exemplar=1&LAN=DE A1 Mullegama, Sureni V. A1 Kiernan, Kaitlyn A. A1 Torti, Erin A1 Pavlovsky, Ethan A1 Tilton, Nicholas A1 Sekula, Austin A1 Gao, Hua A1 Alaimo, Joseph T. A1 Engleman, Kendra A1 Rush, Eric T. A1 Blocker, Karli A1 Dipple, Katrina M. A1 Fettig, Veronica M. A1 Hare, Heather A1 Glass, Ian A1 Grange, Dorothy K. A1 Griffin, Michael A1 Phornphutkul, Chanika A1 Massingham, Lauren A1 Mehta, Lakshmi A1 Miller, Danny E. A1 Thies, Jenny A1 Merritt II, J Lawrence A1 Muller II, Eric A1 Osmond, Matthew A1 Sawyer, Sarah L. A1 Slaugh, Rachel A1 Hickey, Rachel E. A1 Wolf, Barry A1 Choudhary, Sanjeev PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 6 SP 1240 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2024.05.004 DO https://doi.org/10.1016/j.ajhg.2024.05.004 SF ELIB - SuUB Bremen
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