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Article

Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.

American journal of medical genetics. Part A - 1 Nov 2020

Macchiaiolo Marina, Panfili Filippo Maria, Gonfiantini Michaela Veronika, Mastrogiorgio Gerarda, Buonuomo Paola Sabrina, Gaspari Stefania, Longo Daniela, Zollino Marcella, Bartuli Andrea

Abstract excerpt

Pitt-Hopkins syndrome (PTHS, MIM #610954) is a rare neurodevelopmental disease characterized by the association of intellectual disability, characteristic facial gestalt and episodes of abnormal and irregular breathing. PTHS is due to heterozygous loss-of-function variants in the TCF4 gene (transcription factor 4, MIM #602272) encoding for a basic helix-loop-helix transcription factor. TCF4 is highly expressed...

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Identifiers

PMID: 32945094
DOI: 10.1002/ajmg.a.61840

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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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263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.Semantic proximity Read ↗

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