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Article

Aortopathy in the 7q11.23 microduplication syndrome.

American journal of medical genetics. Part A - 1 Feb 2015

Parrott Ashley, James Jeanne, Goldenberg Paula, Hinton Robert B, Miller Erin, Shikany Amy, Aylsworth Arthur S, Kaiser-Rogers Kathleen, Ferns Sunita J, Lalani Seema R, Ware Stephanie M

Abstract excerpt

The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus,...

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Source

Identifiers

PMID: 25428557
DOI: 10.1002/ajmg.a.36859

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ELN

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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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