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Article

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

European journal of medical genetics - 1 Nov 2018

Pozojevic Jelena, Parenti Ilaria, Graul-Neumann Luitgard, Ruiz Gil Sara, Watrin Erwan, Wendt Kerstin S, Werner Ralf, Strom Tim M, Gillessen-Kaesbach Gabriele, Kaiser Frank J

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29155047
DOI: 10.1016/j.ejmg.2017.11.004

Genes

NIPBL
HDAC8
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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