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

Authors: Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

Subject Terms: Ribonuclease, RNASET2-deficienct leukoencephalopathy, Cystic leukoencephalopathy, Aicardi-Goutieres syndrome, Congenital cytomegalovirus infection, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1155-9; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/da85c8a47676435d916fcf8992d52ec5