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

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.

American journal of medical genetics. Part A - 1 Jan 2011

Sripathomsawat Warissara, Tanpaiboon Pranoot, Heering Jan, Dötsch Volker, Hennekam Raoul C M, Kantaputra Piranit

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cleft Lip
Share to Cleft Palate
Share to Ectodermal Dysplasia
Share to Netherlands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Thailand

Share to Tooth Abnormalities

Share to Trans-Activators

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 21204238
DOI: 10.1002/ajmg.a.33768

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.PMID 21204238Read ↗

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 ↗

EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?Semantic proximity Read ↗

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.Semantic proximity Read ↗

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

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

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

Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalitiesSemantic proximity Read ↗

Pattern of p63 mutations and their phenotypes--update.Semantic proximity Read ↗

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.Semantic proximity Read ↗

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

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

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

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