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Article

Mosaic Williams syndrome: A case report.

American journal of medical genetics. Part A - 1 Jan 2023

Kalantari Silvia, Biagio Marta Di, Valente Enza Maria, Rossi Elena, Sirchia Fabio

Abstract excerpt

Williams syndrome (WS) is a well-known genetic disorder caused by heterozygous microdeletions of the 7q11.23 chromosome region. The main clinical features of the syndrome are characteristic facial dysmorphisms, cardiovascular and endocrine anomalies, short stature, mild-to-moderate intellectual disability, and a recognizable cognitive and behavioral profile. Differently from large chromosomal imbalances and...

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Identifiers

PMID: 36263864
DOI: 10.1002/ajmg.a.63002

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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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