Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
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United States: John Wiley & Sons, Inc
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English
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United States: John Wiley & Sons, Inc
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Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog enriched in brain (RHEB) variants. The somatic variant load directly correlated with the size of the malformati...
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Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
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TN_cdi_doaj_primary_oai_doaj_org_article_3037ab4905b242568f51ef06d52f0962
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3037ab4905b242568f51ef06d52f0962
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ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51286
