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Article

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

European journal of human genetics : EJHG - 1 Aug 2008

Torniero Claudia, Dalla Bernardina Bernardo, Novara Francesca, Cerini Roberto, Bonaglia Clara, Pramparo Tiziano, Ciccone Roberto, Guerrini Renzo, Zuffardi Orsetta

Abstract excerpt

We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. He exhibited speech delay and mental retardation together to type...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18337728
DOI: 10.1038/ejhg.2008.42

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18337728-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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