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Article

Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.

Journal of structural biology - 1 Mar 2021

Osko Jeremy D, Porter Nicholas J, Decroos Christophe, Lee Matthew S, Watson Paris R, Raible Sarah E, Krantz Ian D, Deardorff Matthew A, Christianson David W

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) and associated spectrum disorders are characterized by one or more congenital anomalies including distinctive facial features, upper limb abnormalities, intellectual disability, and other symptoms. The molecular genetic basis of CdLS is linked to defects in cohesin, a protein complex that functions in sister chromatid cohesion, chromatin organization, and transcriptional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33316326
DOI: 10.1016/j.jsb.2020.107681
PMCID: PMC7981260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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