Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Background: This work aims to describe the clinico-radiological phenotype of UBTF c.628G>A (p.Glu210Lys) pathogenic variant-related neurodegeneration in childhood. Methods: We describe the progress of clinical and neuroimaging features in a male individual who had childhood-onset neuroregression...

Descripción completa

Detalles Bibliográficos
Autores principales: Chi, Ching-Shiang, Lee, Hsiu-Fen, Tsai, Chi-Ren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496937/
https://www.ncbi.nlm.nih.gov/pubmed/36138999
http://dx.doi.org/10.3390/brainsci12091262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496937/
https://www.ncbi.nlm.nih.gov/pubmed/36138999
http://dx.doi.org/10.3390/brainsci12091262

Ejemplares similares