De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024)Sureni V. Mullegama , Kaitlyn A. Kiernan , Erin Torti , Ethan Pavlovsky , Nicholas Tilton , Austin Sekula , Hua Gao , Joseph T. Alaimo , Kendra Engleman , Eric T. Rush , Karli Blocker , Katrina M. Dipple , Veronica M. Fettig , Heather Hare , Ian Glass , Dorothy K. Grange , Michael Griffin , Chanika Phornphutkul , Lauren Massingham , Lakshmi Mehta , Danny E. Miller , Jenny Thies , J. Lawrence Merritt , Eric Muller , Matthew Osmond , Sarah L. Sawyer , Rachel Slaugh , Rachel E. Hickey , Barry Wolf , Sanjeev Choudhary , Miljan Simonovic , Yueqing Zhang , Timothy Blake Palculict , Aida Telegrafi , Deanna Alexis Carere , Ingrid M. Wentzensen , Michelle M. Morrow , Kristin G. Monaghan , Jane Juusola , Jun Yang AMERICAN JOURNAL OF HUMAN GENETICS(2024)
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