Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis an...
Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown.
We present the hi...
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Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease
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TN_cdi_doaj_primary_oai_doaj_org_article_5ca03fa18bd84c048808dd4b3d6b62b0
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5ca03fa18bd84c048808dd4b3d6b62b0
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ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-021-02531-y
