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Article

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

Italian journal of pediatrics - 2 Feb 2010

Taddeucci Grazia, Bonuccelli Alice, Mantellassi Ilaria, Orsini Alessandro, Tarantino Enrico

Abstract excerpt

AIMS: We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies. METHODS: The child underwent genetic (karyotype, FISH telomeres) and neuroradiological (cranial CT and MRI) tests, which proved to be normal. He came under our clinical observation at 3 years and 5 months...

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Source

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Identifiers

PMID: 20205897
DOI: 10.1186/1824-7288-36-12
PMCID: PMC2827426

Genes

TCF4
SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.PMID 20205897Read ↗

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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 ↗

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

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

A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.Semantic proximity Read ↗

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

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.Semantic proximity Read ↗

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