Associated Papers
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2021
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.
McNeill N et al.
Neurology. Genetics, 2017
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM et al.
Nature Genetics, 2016
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