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

PURPOSE: Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs). METHODS: Molecular testing was performed usin...

Descripción completa

Detalles Bibliográficos
Autores principales: Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, Albadi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426662/
https://www.ncbi.nlm.nih.gov/pubmed/35482014
http://dx.doi.org/10.1016/j.gim.2022.03.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426662/
https://www.ncbi.nlm.nih.gov/pubmed/35482014
http://dx.doi.org/10.1016/j.gim.2022.03.014

Ejemplares similares