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Article

Gastrointestinal phenotype of ATR-X syndrome.

American journal of medical genetics. Part A - 1 Jun 2006

Martucciello Giuseppe, Lombardi Laura, Savasta Salvatore, Gibbons Richard J

Abstract excerpt

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food...

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Identifiers

PMID: 16688741
DOI: 10.1002/ajmg.a.31248

Genes

ATR

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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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