ReviewAmerican journal of medical genetics. Part A2019
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Review in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
81 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Techniques and outcomes in prosthetic rehabilitation for patients with ectodermal dysplasia: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2026Pooled it
- Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Article
- Reducing Unmet Needs in Hidradenitis Suppurativa by Including the Hair Follicle Among an Arsenal of Targets.Experimental dermatology · 2026Review
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study.Acta dermato-venereologica · 2026Article
- X-Linked Anhidrotic Ectodermal Dysplasia in A 19-Year-Old Male: A Classic Phenotype.Clinical case reports · 2026Article
- Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma.Acta dermato-venereologica · 2026Article
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab.Acta dermato-venereologica · 2026Article
- Novel variants ofFrontiers in genetics · 2026Article
- Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.Frontiers in immunology · 2026Article
- A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.BMC medical genomics · 2025Article
- Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.European journal of pediatrics · 2025Article
- A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.Molecular syndromology · 2025Article
- Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia.Healthcare (Basel, Switzerland) · 2025Article
- Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.Acta dermato-venereologica · 2025Article
- EDA1 variants inhibit the odontogenic differentiation and proliferation of human dental pulp stem cells.BMC oral health · 2025Article
- Transdifferentiation of rat keratinocyte progenitors to corneal epithelial cells by limbal niche via the STAT3/PI3K/AKT signaling pathway.Stem cell research & therapy · 2025Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 15 institutions in 6 countries.
Funding
Abstract
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA "ectodysplasin"). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT "wingless-type," TP63 "tumor protein p63") or the components of complex molecular structures (e.g., connexins, keratins, cadherins).
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.