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Article

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2016

Kaur Maninder, Mehta Devanshi, Noon Sarah E, Deardorff Matthew A, Zhang Zhe, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare, genetically heterogeneous multisystem developmental disorder with a high degree of variability in its clinical presentation. Approximately 65% of probands harbor mutations in genes that encode core components (SMC1A, SMC3, and RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex, of which mutations in NIPBL are the most common. Cohesin plays a canonical role in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27125329
DOI: 10.1002/ajmg.c.31495

Genes

NIPBL
HDAC8
SMC3
RAD21

Provenance

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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