RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

BACKGROUND: Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive neurogen...

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Detalles Bibliográficos
Autores principales: Kameli, Reyhaneh, Amanat, Man, Rezaei, Zahra, Hosseionpour, Sareh, Nikbakht, Sedigheh, Alizadeh, Houman, Ashrafi, Mahmoud Reza, Omrani, Abdolmajid, Garshasbi, Masoud, Tavasoli, Ali Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660666/
https://www.ncbi.nlm.nih.gov/pubmed/31349848
http://dx.doi.org/10.1186/s13023-019-1155-9

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