A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Genet Med
.
2022 Oct;24(10):2207.
doi: 10.1016/j.gim.2022.07.021.
Authors
Suma P Shankar
,
Kristin Grimsrud
,
Louise Lanoue
,
Alena Egense
,
Brandon Willis
,
Johanna Hörberg
,
Lama AlAbdi
,
Klaus Mayer
,
Koray Ütkür
,
Kristin G Monaghan
,
Joel Krier
,
Joan Stoler
,
Maha Alnemer
,
Prabhu R Shankar
,
Raffael Schaffrath
,
Fowzan S Alkuraya
,
Ulrich Brinkmann
,
Leif A Eriksson
,
Kent Lloyd
,
Katherine A Rauen
;
Undiagnosed Diseases Network
PMID:
36205747
PMCID:
PMC9598985
DOI:
10.1016/j.gim.2022.07.021
No abstract available
Publication types
Published Erratum
Grants and funding
U01 HG007690/HG/NHGRI NIH HHS/United States