Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
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DOI: 10.3389/fgene.2018.00255
Abstract: Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic NIPBL variants are… read more here.
Keywords: intronic nipbl; lange syndrome; somatic mosaicism; family ... See more keywords