De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Am J Hum Genet
.
2017 Apr 6;100(4):689.
doi: 10.1016/j.ajhg.2017.03.003.
Authors
Sébastien Küry
,
Thomas Besnard
,
Frédéric Ebstein
,
Tahir N Khan
,
Tomasz Gambin
,
Jessica Douglas
,
Carlos A Bacino
,
William J Craigen
,
Stephan J Sanders
,
Andrea Lehmann
,
Xénia Latypova
,
Kamal Khan
,
Mathilde Pacault
,
Stephanie Sacharow
,
Kimberly Glaser
,
Eric Bieth
,
Laurence Perrin-Sabourin
,
Marie-Line Jacquemont
,
Megan T Cho
,
Elizabeth Roeder
,
Anne-Sophie Denommé-Pichon
,
Kristin G Monaghan
,
Bo Yuan
,
Fan Xia
,
Sylvain Simon
,
Dominique Bonneau
,
Philippe Parent
,
Brigitte Gilbert-Dussardier
,
Sylvie Odent
,
Annick Toutain
,
Laurent Pasquier
,
Deborah Barbouth
,
Chad A Shaw
,
Ankita Patel
,
Janice L Smith
,
Weimin Bi
,
Sébastien Schmitt
,
Wallid Deb
,
Mathilde Nizon
,
Sandra Mercier
,
Marie Vincent
,
Caroline Rooryck
,
Valérie Malan
,
Ignacio Briceño
,
Alberto Gómez
,
Kimberly M Nugent
,
James B Gibson
,
Benjamin Cogné
,
James R Lupski
,
Holly A F Stessman
,
Evan E Eichler
,
Kyle Retterer
,
Yaping Yang
,
Richard Redon
,
Nicholas Katsanis
,
Jill A Rosenfeld
,
Peter-Michael Kloetzel
,
Christelle Golzio
,
Stéphane Bézieau
,
Paweł Stankiewicz
,
Bertrand Isidor
PMID:
28388435
PMCID:
PMC5384094
DOI:
10.1016/j.ajhg.2017.03.003
No abstract available
Publication types
Published Erratum
Grants and funding
R01 GM121317/GM/NIGMS NIH HHS/United States