A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot–Marie–Tooth syndrome type 1I (CMT1I...

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Detalles Bibliográficos
Autores principales: Colona, Vito Luigi, Bertini, Enrico, Digilio, Maria Cristina, D’Amico, Adele, Novelli, Antonio, Pro, Stefano, Pisaneschi, Elisa, Nicita, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670162/
https://www.ncbi.nlm.nih.gov/pubmed/38002527
http://dx.doi.org/10.3390/brainsci13111567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670162/
https://www.ncbi.nlm.nih.gov/pubmed/38002527
http://dx.doi.org/10.3390/brainsci13111567

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