A brother and sister with intellectual disability and characteristic neuroimaging findings
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference8 articles.
1. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy;Labrune;Neurology,1996
2. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus;Livingston;Neuropediatrics,2014
3. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts;Jenkinson;Nat Genet,2016
4. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts;Iwama;Clin Genet,2017
5. White matter involvement in a family with a novel PDGFB mutation;Biancheri;Neurol Genet,2016
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1. Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature;Genes;2023-09-19
2. Leukoencephalopathy with calcifications and cysts: A case report with literature review;Neurological Sciences;2023-04-01
3. Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review;Journal of Movement Disorders;2021-12-24
4. Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature;Neurological Sciences;2021-09-05
5. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum;American Journal of Medical Genetics Part A;2020-10-07
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