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Diphthamide-Deficiency Syndrome: A Novel Human Developmental Disorder and Ribosomopathy

Diphthamide-deficiency Syndrome: A Novel Human Developmental Disorder and Ribosomopathy

Authors: Hawer H, Mendelsohn BA, Mayer K, Kung A, Malhotra A, Tuupanen S, Schleit J, Brinkmann U, Schaffrath R.

Eur J Hum Genet. 2020 Nov;28(11):1497-1508. doi: 10.1038/s41431-020-0668-y. Epub 2020 Jun 23.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Neurology

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