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

Sweating ability of patients with p63-associated syndromes.

European journal of pediatrics - 1 Nov 2018

Ferstl Paul, Wohlfart Sigrun, Schneider Holm

Abstract excerpt

Sweating deficiency has been reported to represent a cardinal symptom of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, two rare p63-associated disorders. According to online resources, hypohidrosis may lead to most life-threatening complications in affected patients. Thus, counseling on the prevention of hyperthermia would be...

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

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Eyelids

Share to Genetic Association Studies

Share to Transcription Factors

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 30088137
DOI: 10.1007/s00431-018-3227-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sweating ability of patients with p63-associated syndromes.PMID 30088137Read ↗

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.Semantic proximity Read ↗

Inherited disorders of corneocyte proteins.Semantic proximity Read ↗

Defective channels lead to an impaired skin barrier.Semantic proximity Read ↗

Isoform-Specific Roles of Mutant p63 in Human DiseasesSemantic 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 ↗

Modeling AEC-New approaches to study rare genetic disorders.Semantic proximity Read ↗

A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.Semantic proximity Read ↗

Ectodermal dysplasias: the p63 tail.Semantic proximity Read ↗

A newborn with overlapping features of AEC and EEC syndromes.Semantic proximity Read ↗

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.Semantic proximity Read ↗

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