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Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64233Source: DataRank Database

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism is a research paper published in American Journal of Medical Genetics Part A (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Open Access1 citations

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Enrichment:Funding (3 grants)Impact (FWCI 0.42)OA: hybridTopics (29)IDs (PubMed, PMC, OpenAlex)Annotations (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (21)

Kimberly Ezell ORCID,Deanna S. Bell ORCID,Brian Corner,Ashley McMinn,Joy D. Cogan ORCID

Live enrichment

PubMed:40838347 PMC:PMC13282996 OpenAlex:https://openalex.org/W4413401050

National Institute of Neurological Disorders and Stroke

Grant: U01NS134349

National Institutes of Health

NIH HHS

FWCI

0.42

Citation Percentile

0.6%

Citation Trend

2026

hybridLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64233

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64233

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64233

journalhttps://doi.org/10.1002/ajmg.a.64233

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40838347

Fields of Study

Epigenetics and DNA MethylationGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities

MeSH Terms

Abnormalities, MultipleChildDevelopmental DisabilitiesFemaleHeterozygoteHumansIntellectual DisabilityMosaicismMutationPhenotypeMediator Complex

Keywords

ProbandGeneticsBiologyGlobal developmental delayCompound heterozygosityProteus syndromeClinodactylyPhenotypeMutationMediator ComplexMitotic InstabilitySemaglutideMed12lNizon‐isidor SyndromeDiploid–triploid Mosaicism