Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

American journal of medical genetics. Part A - 1 Dec 2012

Rossi Massimiliano, Labalme Audrey, Cordier Marie-Pierre, Till Marianne, Blanchard Gaëlle, Dubois Remi, Guibaud Laurent, Heissat Sophie, Javouhey Etienne, Lachaux Alain, Mure Pierre-Yves, Ville Dorothée, Edery Patrick, Sanlaville Damien

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial dysmorphism, profound intellectual disability, and the possible occurrence of epilepsy and breathing anomalies. It is caused by haploinsufficiency of the TCF4 gene. No significant difference in clinical severity has been reported to date between PTHS patients carrying 18q21 deletions including the TCF4 gene, and those harboring TCF4 point...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Share to Chromosomes, Human, Pair 18

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Intellectual Disability

Share to Point Mutation

Share to Sequence Deletion

Share to Transcription Factor 4

Share to Transcription Factors

Source

Identifiers

PMID: 23165966
DOI: 10.1002/ajmg.a.35588

Genes

TCF4

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.PMID 23165966Read ↗

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

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.Semantic proximity Read ↗

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

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.Semantic proximity Read ↗

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

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.Semantic proximity Read ↗

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

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.Semantic proximity Read ↗

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

[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].Semantic proximity Read ↗

Proposal of a clinical score for the molecular test for 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 ↗

⌁Select a neighboring publication to make it the new centre.