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Article

Phenotype of 7q11.23 duplication: A family clinical series.

American journal of medical genetics. Part A - 1 Jan 2017

Earhart Beth A, Williams Marian E, Zamora Irina, Randolph Linda Marie, Votava-Smith Jodie K, Marcy Stephanie N

Abstract excerpt

Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This...

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Identifiers

PMID: 27615053
DOI: 10.1002/ajmg.a.37966

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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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