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Article

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Human molecular genetics - 15 Aug 2014

Schulz Yvonne, Freese Luisa, Mänz Johanna, Zoll Barbara, Völter Christiane, Brockmann Knut, Bögershausen Nina, Becker Jutta, Wollnik Bernd, Pauli Silke

Abstract excerpt

CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and...

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Source

Identifiers

PMID: 24705355
DOI: 10.1093/hmg/ddu156

Genes

CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24705355-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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CHARGE and Kabuki syndromes: a phenotypic and molecular link.PMID 24705355Read ↗

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CHARGE: an association or a syndrome?Semantic proximity Read ↗

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Semantic proximity Read ↗

Kabuki Syndrome-Clinical Review with Molecular Aspects.Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.Semantic proximity Read ↗

Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutationSemantic proximity Read ↗

[Kabuki syndrome: Update and review].Semantic proximity Read ↗

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