A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype

BACKGROUND: A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood‐Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alteration yields a positively charged stretch of three lysi...

Descripción completa

Detalles Bibliográficos
Autores principales: Tinker, Rory J., Guess, Tiffany, Rinker, David C., Sheehan, Jonathan H., Lubarsky, Daniel, Porath, Binu, Mosera, Mackenzie, Mayo, Ping, Solem, Emily, Lee, Laura A., Sharam, Asha, Brault, Jennifer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747545/
https://www.ncbi.nlm.nih.gov/pubmed/36106513
http://dx.doi.org/10.1002/mgg3.2054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747545/
https://www.ncbi.nlm.nih.gov/pubmed/36106513
http://dx.doi.org/10.1002/mgg3.2054

Ejemplares similares