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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 II trigonocephaly and other abnormalities. The proband's mother carried the same imbalance, though her phenotype was...

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Identifiers

PMID: 18337728
DOI: 10.1038/ejhg.2008.42

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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