Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann g...
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
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England: BioMed Central Ltd
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English
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Publisher
England: BioMed Central Ltd
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Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter. Only seven molecularly proven cases with antenatal onset have been reported so far. We report for the first...
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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
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TN_cdi_doaj_primary_oai_doaj_org_article_8c691012645f42059f22d1f2c7825268
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8c691012645f42059f22d1f2c7825268
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ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-020-00929-2
