De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Am J Hum Genet
.
2017 Jan 5;100(1):179.
doi: 10.1016/j.ajhg.2016.12.004.
Authors
Vandana Shashi
,
Loren D M Pena
,
Katherine Kim
,
Barbara Burton
,
Maja Hempel
,
Kelly Schoch
,
Magdalena Walkiewicz
,
Heather M McLaughlin
,
Megan Cho
,
Nicholas Stong
,
Scott E Hickey
,
Christine M Shuss
;
Undiagnosed Diseases Network
;
Michael S Freemark
,
Jane S Bellet
,
Martha Ann Keels
,
Melanie J Bonner
,
Maysantoine El-Dairi
,
Megan Butler
,
Peter G Kranz
,
Constance T R M Stumpel
,
Sylvia Klinkenberg
,
Karin Oberndorff
,
Malik Alawi
,
Rene Santer
,
Slavé Petrovski
,
Outi Kuismin
,
Satu Korpi-Heikkilä
,
Olli Pietilainen
,
Palotie Aarno
,
Mitja I Kurki
,
Alexander Hoischen
,
Anna C Need
,
David B Goldstein
,
Fanny Kortüm
PMID:
28061364
PMCID:
PMC5223056
DOI:
10.1016/j.ajhg.2016.12.004
No abstract available
Publication types
Published Erratum
Grants and funding
U01 HG007672/HG/NHGRI NIH HHS/United States
U01 HG007690/HG/NHGRI NIH HHS/United States
U01 HG007703/HG/NHGRI NIH HHS/United States
U01 HG007943/HG/NHGRI NIH HHS/United States