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Published in 2018 at "Frontiers in Genetics"
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…
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Keywords:
intronic nipbl;
lange syndrome;
somatic mosaicism;
family ... See more keywords