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

A case of Rapp-Hodgkin syndrome featuring prominent oral leukokeratosis linked to a TP63 gene variant.

BMC oral health - 30 Apr 2026

Gan Weiai, Wei Jie, Zhao Zhengyan, Zhang Ying, Wu Lan

Abstract excerpt

BACKGROUND: Rapp-Hodgkin syndrome (RHS) is a rare autosomal dominant disorder caused by TP63 gene mutations. This case warrants reporting due to the presence of significant limb malformations, extensive caries in the maxillary teeth, and congenital absence of multiple mandibular teeth, accompanied by remarkably widespread oral leukokeratosis. Its novelty lies in exploring the synergistic role of chronic local...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Cleft Lip
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Leukoplakia, Oral

Share to Mouth Mucosa

Share to Transcription Factors

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42057083
DOI: 10.1186/s12903-026-08478-1
PMCID: PMC13326141

Genes

TP63

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of Rapp-Hodgkin syndrome featuring prominent oral leukokeratosis linked to a TP63 gene variant.PMID 42057083Read ↗

A case of Rapp-Hodgkin syndrome featuring prominent oral leukokeratosis linked to a TP63 gene variantSemantic proximity Read ↗

Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.Semantic proximity Read ↗

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.Semantic proximity Read ↗

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.Semantic proximity Read ↗

Rapp-Hodgkin syndrome and the tail of p63.Semantic proximity Read ↗

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis CongenitaSemantic proximity Read ↗

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.Semantic proximity Read ↗

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.Semantic proximity Read ↗

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.Semantic proximity Read ↗

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.Semantic proximity Read ↗

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.Semantic proximity Read ↗

Clinical and pathological features of pachyonychia congenita.Semantic proximity Read ↗

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