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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...

Topics

Humans
Rubinstein-Taybi Syndrome
Female
Child, Preschool
Male
Gastrointestinal Diseases
Child
Infant
Adolescent
Constipation
Gastroesophageal Reflux
Deglutition Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Gastrointestinal Tract

Source

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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