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Article

A brother and sister with intellectual disability and characteristic neuroimaging findings.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2018

Hermens Marjolein, van der Knaap Marjo S, Kamsteeg Erik-Jan, Willemsen Michèl A

Abstract excerpt

Leukoencephalopathy with brain calcifications and cysts (LCC) is a genetic white matter disorder, which involves the brain small blood vessels. In the absence of extra-neurological symptoms, LCC has a pathognomonic radiological phenotype. Recently, biallelic mutations in the SNORD118 gene, which is a non-protein coding gene, were discovered to cause LCC. We present here two siblings with developmental delay and a...

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Identifiers

PMID: 29970281
DOI: 10.1016/j.ejpn.2018.06.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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