Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene, SNORD118, were found as the cause for LCC,...

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Detalles Bibliográficos
Autores principales: Politano, Davide, Catalano, Guido, Pezzotti, Elena, Varesio, Costanza, Sirchia, Fabio, Casella, Antonella, Rognone, Elisa, Pichiecchio, Anna, Borgatti, Renato, Orcesi, Simona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531261/
https://www.ncbi.nlm.nih.gov/pubmed/37761957
http://dx.doi.org/10.3390/genes14091817

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