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Article

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

American journal of medical genetics. Part A - 1 Jul 2026

Abi Nassif Mohamad, Kaul Ajay, Dorfman Lev, El-Chammas Khalil

Abstract excerpt

Rubinstein-Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise, but no large cohort has examined these symptoms in detail. This study...

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Identifiers

PMID: 41724656
DOI: 10.1002/ajmg.a.70103

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