ArticleClinical case reports2018
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 19 citations in OpenAlex.
- A novelJournal of pediatric endocrinology & metabolism : JPEM · 2026Article
- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
- Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.Molecular syndromology · 2022Article
- A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.Molecular genetics & genomic medicine · 2022Article
- Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.Molecular and cellular biology · 2020Article
- Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?Molecular genetics & genomic medicine · 2020Article
- Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.Cells · 2020Review
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.Clinical case reports · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This case highlights an important lesson for laboratory genetic testing. Geneticists and Genetic Counselors should be aware that although rare, mosaic variegated aneuploidy should be considered if mosaic aneuploidies are observed on karyotype, particularly in the context of short stature.
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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.