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Article

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

BMC oral health - 22 May 2024

Hassona Yazan, Alqaisi Dua'a, Alkilani Asma, AbuHijleh Iyas

Abstract excerpt

BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities. CASE REPORT: Here we describe a new case of PTHS in a 13-year-old girl with particular...

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Identifiers

PMID: 38778377
DOI: 10.1186/s12903-024-04296-5
PMCID: PMC11112874

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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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