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Article

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

American journal of medical genetics. Part A - 1 Jan 2021

Alesi Viola, Loddo Sara, Orlando Valeria, Genovese Silvia, Di Tommaso Silvia, Liambo Maria Teresa, Pompili Daniele, Ferretti Daniele, Calacci Chiara, Catino Giorgia, Falasca Roberto, Dentici Maria Lisa, Novelli Antonio, Digilio Maria Cristina, Dallapiccola Bruno

Abstract excerpt

Williams-Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of ELN gene. A few cases of larger or smaller deletions have been...

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PMID: 33098373
DOI: 10.1002/ajmg.a.61937

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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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