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Article

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

Journal of human genetics - 1 Sept 2014

Sun Liangdan

Abstract excerpt

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Topics

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Share to De Lange Syndrome
Share to Exome
Share to Genetic Predisposition to Disease
Share to Histone Deacetylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Repressor Proteins

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 25102095
DOI: 10.1038/jhg.2014.68

Genes

HDAC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.PMID 25102095Read ↗

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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Semantic proximity Read ↗

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

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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 ↗

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndromeSemantic proximity Read ↗

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

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.Semantic proximity Read ↗

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.Semantic proximity Read ↗

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.Semantic proximity Read ↗

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

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