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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Authors :
Shankar SP
Grimsrud K
Lanoue L
Egense A
Willis B
Hörberg J
AlAbdi L
Mayer K
Ütkür K
Monaghan KG
Krier J
Stoler J
Alnemer M
Shankar PR
Schaffrath R
Alkuraya FS
Brinkmann U
Eriksson LA
Lloyd K
Rauen KA
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2207.
Publication Year :
2022

Details

Language :
English
ISSN :
1530-0366
Volume :
24
Issue :
10
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Accession number :
36205747
Full Text :
https://doi.org/10.1016/j.gim.2022.07.021