A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
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DOI: 10.3390/genes13050740
Abstract: Background: Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterized by intellectual disability, special facial features, growth retardation, feeding difficulties, and multiple organ system abnormalities. NIPBL variants occur in approximately 80% of CdLS cases.… read more here.
Keywords: lange syndrome; utr nipbl; variant; novel novo ... See more keywords