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Article

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

Journal of human genetics - 1 Nov 2010

Kaliakatsos Marios, Giannakopoulos Aristeidis, Fryssira Helena, Kanariou Maria, Skiathitou Anna-Venetia, Siahanidou Tania, Giannikou Krinio, Makrythanasis Periklis, Kanavakis Emmanuel, Tzetis Maria

Abstract excerpt

Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the...

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Source

Identifiers

PMID: 20686492
DOI: 10.1038/jhg.2010.95

Genes

CHD7

Provenance

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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Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.PMID 20686492Read ↗

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