ArticleGenes2022
Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
21 citing papers in PubMed, 50 citations in OpenAlex.
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- Reducing Unmet Needs in Hidradenitis Suppurativa by Including the Hair Follicle Among an Arsenal of Targets.Experimental dermatology · 2026Review
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.Orphanet journal of rare diseases · 2026Article
- The emergence of the ectodysplasin pathway.Open life sciences · 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
- Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human.Genes & diseases · 2025Article
- Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.European journal of pediatrics · 2025Article
- Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Journal of medical case reports · 2025Article
- Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.Acta dermato-venereologica · 2025Article
- Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.Genes · 2025Article
- Polycystins recruit cargo to distinct ciliary extracellular vesicle subtypes in C. elegans.Nature communications · 2025Article
- Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health.Frontiers in pediatrics · 2025Review
- Article
- Repurposing celecoxib for colorectal cancer targeting via pH-triggered ultra-elastic nanovesicles: Pronounced efficacy through up-regulation of Wnt/β-catenin pathway in DMH-induced tumorigenesis.International journal of pharmaceutics: X · 2024Article
- Congenital Tooth Agenesis and Risk of Early-Onset Cancer.JAMA network open · 2024Article
- The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.Acta dermato-venereologica · 2023Article
- A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.International journal of molecular sciences · 2023Article
- Review
- Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.Frontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term "ectodermal dysplasia", referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene
Indexed as
Identifiers
What OpenQuestion holds
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.