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Article

A case of Pitt-Hopkins syndrome with absence of hyperventilation.

Journal of child neurology - 1 Dec 2013

Inati Adlette, Abbas Hussein A, Korjian Serge, Daaboul Yazan, Harajeily Mohamad, Saab Raya

Abstract excerpt

Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 2½-year-old boy presenting with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features with absence of hyperventilation or other breathing abnormalities. Comparative genomic hybridization and...

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Source

Identifiers

PMID: 23248353
DOI: 10.1177/0883073812468054

Genes

TCF4

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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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Research trail→

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A case of Pitt-Hopkins syndrome with absence of hyperventilation.PMID 23248353Read ↗

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).Semantic proximity Read ↗

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.Semantic proximity Read ↗

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.Semantic proximity Read ↗

TCF4 deletions in Pitt-Hopkins Syndrome.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Semantic proximity Read ↗

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

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

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.Semantic proximity Read ↗

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.Semantic proximity Read ↗

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Semantic proximity Read ↗

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.Semantic proximity Read ↗

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