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

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

Medicine - 30 Oct 2020

Otsuki Yuki, Ueda Koichi, Nuri Takashi, Satoh Chisei, Maekawa Ryuta, Yoshiura Koh-Ichiro

Abstract excerpt

RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT...

Read the complete abstract on PubMed

Topics

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

Share to Anodontia
Share to Breast
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fingers

Share to Hand Deformities, Congenital

Share to Limb Deformities, Congenital

Share to Nails, Malformed

Share to Pigmentation Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 33126320
DOI: 10.1097/MD.0000000000022816
PMCID: PMC7598809

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.PMID 33126320Read ↗

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 ↗

ADULT syndrome due to an R243W mutation in TP63.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 ↗

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

p63-associated disorders.Semantic proximity Read ↗

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

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.Semantic proximity Read ↗

Ectodermal dysplasias: the p63 tail.Semantic proximity Read ↗

The p63 gene in EEC and other syndromes.Semantic proximity Read ↗

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

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

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