ReviewDeutsches Arzteblatt international2020
Disorders Caused by Genetic Mosaicism.
Review in Deutsches Arzteblatt international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.Prenatal diagnosis · 2025Pooled it
- Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation.bioRxiv : the preprint server for biology · 2026Article
- Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Novel postzygoticClinical case reports · 2024Article
- Biomarker Landscape in RASopathies.International journal of molecular sciences · 2024Review
- Review
- The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges.Frontiers in neurology · 2024Review
- The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- The contribution of mosaicism to genetic diseases and de novo pathogenic variants.American journal of medical genetics. Part A · 2023Article
- Localized heterochrony integrates overgrowth potential of oncogenic clones.Disease models & mechanisms · 2023Article
- Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.JBMR plus · 2022Article
- Article
- DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- Review
- Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.Geburtshilfe und Frauenheilkunde · 2022Article
- Frequency ofFrontiers in endocrinology · 2022Article
- Tropical Oral Disease: Analysing Barriers, Burden, Nutrition, Economic Impact, and Inequalities.Frontiers in nutrition · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic mosaics arise through new mutations occurring after fertiliza- tion (i.e., postzygotic mutations). Mosaics have been described in recent years as the cause of many different disorders; many of these are neurocutaneous diseases and syndromal developmental disorders, each with a characteristic phenotype. In some of these disorders, there is a genetic predisposition to the development of tumors. This article is intended as an overview of selected mosaic diseases.
methodsThis review is based on publications retrieved by a selective search in PubMed, with particular attention to recent articles in high-ranking journals dealing with asymmetric growth disturbances, focal brain malformations, mosaic diseases due to dysregulation of the RAS/RAF signaling pathway (mosaic RASopathies), and vascular malformations.
resultsThe identification of postzygotic mutations has led to the reclassification of traditional disease entities and to a better understanding of their pathogenesis. Diagnosis is aided by modern next-generation sequencing (NGS) techniques that allow the detection even of low-grade mosaics. Many mosaic mutations are not detectable in blood, but only in the affected tissue, e.g., the skin. Genetic mosaic diseases often manifest themselves in the skin and brain, and by facial dysmorphism, asymmetrical growth disturbances, and vascular malformations.
conclusionThe possibility of a mosaic disease should be kept in mind in the diag- nostic evaluation of patients with asymmetrical growth disturbances, focal neuronal migration disturbances, vascular malformations, and linear skin abnormalities. The demonstration of a postzygotic mutation often affords relief to the parents of an affected child, since this means that there is no increased risk for recurrence of the same disorder in future children. Correct classification is important, as molecular available for certain mosaic diseases, e.g., PIK3CA-related overgrowth spectrum (PROS) disorder.
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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.