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

Hay-Wells syndrome (AEC): a case report.

Oral diseases - 1 Sept 2006

Macias Emilio, de Carlos Felix, Cobo Juan

Abstract excerpt

We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Anodontia
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Facies

Share to Keratoderma, Palmoplantar

Share to Rare Diseases

Source

Identifiers

PMID: 16910923
DOI: 10.1111/j.1601-0825.2006.01227.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Hay-Wells syndrome (AEC): a case report.PMID 16910923Read ↗

Hay-Wells syndrome: a case report.Semantic proximity Read ↗

[Hay-Wells syndrome: A case report].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 ↗

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

Cutaneous Manifestations in Costello Syndrome: From Atopic Dermatitis to Cutaneous PapillomaSemantic proximity Read ↗

Case Report: Atypical Cornelia de Lange SyndromeSemantic proximity Read ↗

Ectodermal dysplasias: a new clinical-genetic classification.Semantic proximity Read ↗

AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.Semantic proximity Read ↗

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.Semantic proximity Read ↗

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.Semantic proximity Read ↗

Hay-Wells syndrome in a child with mutation in the TP73L gene.Semantic proximity Read ↗

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.Semantic proximity Read ↗

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