Articles with "deletions intragenic" as a keyword



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FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

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Published in 2019 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms20174176

Abstract: Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or… read more here.

Keywords: deletions intragenic; related syndrome; genetics; foxg1 related ... See more keywords