De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Am J Hum Genet
.
2024 Jun 6;111(6):1240.
doi: 10.1016/j.ajhg.2024.05.004.
Epub 2024 May 14.
Authors
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 2nd
,
Eric Muller 2nd
,
Matthew Osmond
,
Sarah L Sawyer
,
Rachel Slaugh
,
Rachel E Hickey
,
Barry Wolf
;
Care4Rare Canada Consortium
;
Undiagnosed Diseases Network
;
Sanjeev Choudhary
,
Miljan Simonović
,
Yueqing Zhang
,
Timothy Blake Palculict
,
Aida Telegrafi
,
Deanna Alexis Carere
,
Ingrid M Wentzensen
,
Michelle M Morrow
,
Kristin G Monaghan
,
Jane Juusola
,
Jun Yang
PMID:
38749428
PMCID:
PMC11179398
DOI:
10.1016/j.ajhg.2024.05.004
No abstract available
Publication types
Published Erratum