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Article

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Cytogenetic and genome research - 1 Jan 2015

Sharma Pankaj, Gupta Neerja, Chowdhury Madhumita R, Phadke Shubha R, Sapra Savita, Halder Ashutosh, Ghosh Manju, Kabra Madhulika

Abstract excerpt

Williams-Beuren syndrome (WBS) or Williams syndrome (OMIM 194050) is a multisystem disorder manifested by neurodevelopmental delay and is caused by a hemizygous deletion of ∼ 1.5-1.8 Mb in the 7q11.23 region. Clinical features include cardiovascular anomalies (mainly supravalvular aortic stenosis), peripheral pulmonary stenosis, distinctive facies, intellectual disability (usually mild), unique personality...

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PMID: 26352091
DOI: 10.1159/000439205

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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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