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Article

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.

American journal of medical genetics. Part A - 1 Jun 2025

Bedeschi Maria Francesca, Baldassarri Annarita, Villa Roberta, Tanzi Federico, Salera Simona, Lombardo Vincenza, Draghi Alessandro, O'Sed Nicole Piazza, Casazza Giovanni, Vecchi Maurizio, Fraquelli Mirella

Abstract excerpt

Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits. All the patients underwent...

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PMID: 39868851
DOI: 10.1002/ajmg.a.63993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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