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

ADULT syndrome due to an R243W mutation in TP63.

International journal of dermatology - 1 Jun 2012

Berk David R, Armstrong Nicole L, Shinawi Marwan, Whelan Alison J

Abstract excerpt

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/pala...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Black People
Share to Breast

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Limb Deformities, Congenital

Share to Nails, Malformed

Share to Pigmentation Disorders

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 22607287
DOI: 10.1111/j.1365-4632.2011.05375.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22607287-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ADULT syndrome due to an R243W mutation in TP63.PMID 22607287Read ↗

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.Semantic proximity Read ↗

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.Semantic proximity Read ↗

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

TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.Semantic proximity Read ↗

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.Semantic proximity Read ↗

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.Semantic proximity Read ↗

Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome.Semantic proximity Read ↗

Further phenotypic and genetic variation in ADULT syndrome.Semantic proximity Read ↗

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.Semantic proximity Read ↗

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-upSemantic proximity Read ↗

Isoform-Specific Roles of Mutant p63 in Human DiseasesSemantic proximity Read ↗

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Semantic proximity Read ↗

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