ReviewAnnual review of genetics2017
Mosaicism in Cutaneous Disorders.
Review in Annual review of genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 39 citations in OpenAlex.
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- Topical sirolimus for the treatment of verrucous epidermal nevus associated with anFrontiers in medicine · 2026Article
- Article
- Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.Orphanet journal of rare diseases · 2025Article
- Emerging Techniques in Spatial Multiomics: Fundamental Principles and Applications to Dermatology.The Journal of investigative dermatology · 2025Review
- Increased caries risk in a Xerostomic patient with Darier disease: a case report of incipient and advanced carious lesions.Oxford medical case reports · 2025Article
- Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.American journal of human genetics · 2024Article
- How Efforts to Understand Somatic Mosaicism Will Impact Dermatology.The Journal of investigative dermatology · 2024Article
- Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice.Nature communications · 2021Article
- Mosaicism in Human Health and Disease.Annual review of genetics · 2020Review
- Mutations in KRT10 in epidermolytic acanthoma.Journal of cutaneous pathology · 2020Article
- Disorders Caused by Genetic Mosaicism.Deutsches Arzteblatt international · 2020Review
- Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2019Article
- Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Review
- A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.Journal of human genetics · 2019Article
- Novel hereditary spherocytosis-associated splice site mutation in theHaematologica · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Genetic mosaicism arises when a zygote harbors two or more distinct genotypes, typically due to de novo, somatic mutation during embryogenesis. The clinical manifestations largely depend on the differentiation status of the mutated cell; earlier mutations target pluripotent cells and generate more widespread disease affecting multiple organ systems. If gonadal tissue is spared-as in somatic genomic mosaicism-the mutation and its effects are limited to the proband, whereas mosaicism also affecting the gametes, such as germline or gonosomal mosaicism, is transmissible. Mosaicism is easily appreciated in cutaneous disorders, as phenotypically distinct mutant cells often give rise to lesions in patterns determined by the affected cell type. Genetic investigation of cutaneous mosaic disorders has identified pathways central to disease pathogenesis, revealing novel therapeutic targets. In this review, we discuss examples of cutaneous mosaicism, approaches to gene discovery in these disorders, and insights into molecular pathobiology that have potential for clinical translation.
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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.