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Article

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Journal of human genetics - 1 Sept 2014

Feng Lei, Zhou Daizhan, Zhang Zhou, Liu Yun, Yang Yabo

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. The clinical features of CdLS include growth retardation, intellectual disability, limb defects, typical facial dysmorphism and other systemic involvement. Here, we present the clinical and genetic characterization of a sporadic CdLS trio. The proband is a 7-year-old girl with typical CdLS, and both parents are...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25102094
DOI: 10.1038/jhg.2014.60

Genes

HDAC8

Variants

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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Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.PMID 25102094Read ↗

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.Semantic proximity Read ↗

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Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.Semantic proximity Read ↗

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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.Semantic proximity Read ↗

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

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