RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

doi:10.1016/j.pediatrneurol.2016.09.003

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Article

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatric neurology - 1 Jan 2017

Ulrick Nicole, Goldstein Amy, Simons Cas, Taft Ryan J, Helman Guy, Pizzino Amy, Bloom Miriam, Vogt Julie, Pysden Karen, Diodato Daria, Martinelli Diego, Monavari Ahmad, Buhas Daniela, van Karnebeek Clara D M, Dorboz Imen, Boespflug-Tanguy Odile, Rodriguez Diana, Tétreault Martine, Majewski Jacek, Bernard Genevieve, Ng Yi Shiau, McFarland Robert, Vanderver Adeline

Abstract excerpt

BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical...

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Identifiers

PMID: 27843092
DOI: 10.1016/j.pediatrneurol.2016.09.003

Genes

RMND1
RNASET2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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