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

A Splice Site Variation in the <i>TP63</i> Gene Leads to Mild Atypical <scp>EEC3</scp> in a Large Chinese Family

2 Aug 2026

Abstract excerpt

The data that support the findings of this study are available from the corresponding author on reasonable request.

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Genomic variations and chromosomal abnormalities
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 42544019
DOI: 10.1111/ijd.70609

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Splice Site Variation in the <i>TP63</i> Gene Leads to Mild Atypical <scp>EEC3</scp> in a Large Chinese FamilyPMID 42544019Read ↗

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC SyndromeSemantic proximity Read ↗

A Novel <i>de novo TP63</i> Mutation in Whole Exome Sequencing of a Syrian Family with Oral Cleft and EctrodactylySemantic proximity Read ↗

A mutation of the <i>p63</i> gene in non-syndromic cleft lipSemantic proximity Read ↗

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.Semantic proximity Read ↗

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.Semantic proximity Read ↗

<i>TMEM230</i> is not a gene for Parkinson’s diseaseSemantic proximity Read ↗

A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia.Semantic proximity Read ↗

Molecular basis for the p and P(k) phenotypes in three Chinese individuals.Semantic proximity Read ↗

A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia.Semantic proximity Read ↗

Molecular characterisation and diagnosis of Hb J-Taichung (129[H7]Ala-->Asp) in a Taiwanese family subject.Semantic proximity Read ↗

A novel splicing abnormality in a Japanese patient with Gaucher's disease.Semantic proximity Read ↗

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