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Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-24808-z
Abstract: Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients.…
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Keywords:
genome wide;
lange syndrome;
cohesin;
nipbl scc2 ... See more keywords