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

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

doi:10.1016/j.gim.2022.07.021

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

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

Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G Monaghan, …

Genetics in medicine, Vol.24(10), pp.2207-2207

01/10/2022

DOI: https://doi.org/10.1016/j.gim.2022.07.021

PMID: 36205747

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Title: A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Creators - without role: 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
Publication Details: Genetics in medicine, Vol.24(10), pp.2207-2207
Identifiers: 9913389108331
Academic Unit: King Faisal University; Alfaisal University; King Khalid University; King Saud University
Language: English
Resource Type: Journal article