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

Published 2019 View Full Article

Authors

Keywords

Ribonuclease, RNASET2-deficienct leukoencephalopathy, Cystic leukoencephalopathy, Aicardi-Goutieres syndrome, Congenital cytomegalovirus infection

Journal

Orphanet Journal of Rare Diseases

Volume 14, Issue 1, Pages -

Publisher

Springer Science and Business Media LLC

Online

2019-07-26

DOI

10.1186/s13023-019-1155-9

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