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Article

Speculations on the pathogenesis of CHARGE syndrome.

American journal of medical genetics. Part A - 15 Mar 2005

Williams Marc S

Abstract excerpt

To be seriously considered, a theory about the pathogenesis of a multiple congenital anomaly syndrome should meet three criteria: (1) it should explain all of the anomalies associated with the syndrome; (2) it should explain why certain anomalies are not associated with the syndrome; and (3) it should predict anomalies that could be associated with the syndrome, but have not yet been described. The theory must...

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Source

Identifiers

PMID: 15637730
DOI: 10.1002/ajmg.a.30561

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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Family history and clefting as major criteria for CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: an update.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.Semantic proximity Read ↗

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