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Article

Fatal gastrointestinal complications in Pitt-Hopkins syndrome.

American journal of medical genetics. Part A - 1 Mar 2023

Koppen Ilan J N, Menke Leonie A, Westra Wytske M, Struik Femke, Mesman Simone, van Wijk Michiel P, Huisman Sylvia A

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications. We aim to increase awareness among healthcare professionals who care for...

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PMID: 36511359
DOI: 10.1002/ajmg.a.63079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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