ArticleGenes2026
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
Massimiliano Chetta, Simone Lattarulo, Michele Stasi, Yevheniia Krylovska, Patrizia Lastella, Nicoletta Resta, Orazio Palumbo, Pietro Palumbo, Nenad Bukvic
Abstract readCase Reports
In one paragraphArticle in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
2 · The registryThe trial behind it
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5 · Who and what moneyAuthors and funding
9 authors.
Massimiliano ChettaLaboratory di Biologia Molecolare UOC di Anatomia Patologica, Azienda Ospedaliero Universitaria San Giovanni di Dio Ruggi d'Aragona Scuola Medica Salernitana, 84121 Salerno, Italy.
Simone LattaruloMedical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Michele StasiMedical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Yevheniia KrylovskaMedical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.
Patrizia LastellaMedical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.
Nicoletta RestaMedical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-8640-5532 Orazio PalumboDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-6583-3482 Pietro PalumboDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-9498-9902 Nenad BukvicMedical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0002-9235-8987 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
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Indexed as
Developmental DisabilitiesIntellectual DisabilityTransposasesAdultCell Cycle ProteinsChildChild, PreschoolDNA-Binding ProteinsExome SequencingFemaleHeterozygoteHumansMalePedigreePhenotypeCell Cycle ProteinsDNA-Binding ProteinsPOGZ protein, humanTransposasesfamilial pediatric and adult casesPOGZWhite–Sutton Syndrome—WHSUS
Identifiers
PMID42353881
PMCPMC13300081
What OpenQuestion holds
Textmetadata
LicenceCC BY
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