Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

doi:10.1007/s00439-017-1758-y

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Article

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Human genetics - 1 Mar 2017

Parenti Ilaria, Teresa-Rodrigo María E, Pozojevic Jelena, Ruiz Gil Sara, Bader Ingrid, Braunholz Diana, Bramswig Nuria C, Gervasini Cristina, Larizza Lidia, Pfeiffer Lutz, Ozkinay Ferda, Ramos Feliciano, Reiz Benedikt, Rittinger Olaf, Strom Tim M, Watrin Erwan, Wendt Kerstin, Wieczorek Dagmar, Wollnik Bernd, Baquero-Montoya Carolina, Pié Juan, Deardorff Matthew A, Gillessen-Kaesbach Gabriele, Kaiser Frank J

Abstract excerpt

The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS)...

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PMID: 28120103
DOI: 10.1007/s00439-017-1758-y

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NIPBL
SETD5

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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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