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Article

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Genes - 8 Aug 2022

Lucia-Campos Cristina, Valenzuela Irene, Latorre-Pellicer Ana, Ros-Pardo David, Gil-Salvador Marta, Arnedo María, Puisac Beatriz, Castells Neus, Plaja Alberto, Tenes Anna, Cuscó Ivon, Trujillano Laura, Ramos Feliciano J, Tizzano Eduardo F, Gómez-Puertas Paulino, Pié Juan

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes related to the cohesin complex. Single-nucleotide variations are the best-known genetic cause of CdLS; however, copy number variants (CNVs) clearly underlie a...

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Identifiers

PMID: 36011323
DOI: 10.3390/genes13081413
PMCID: PMC9408140

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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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