Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
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DOI: 10.1073/pnas.2201029119
Abstract: Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here… read more here.
Keywords: mutations nipbl; lange syndrome; dna loop; extrusion ... See more keywords