View in EDS HTML Full Text PDF Full Text

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Saved in:
Bibliographic Details
Title: Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
Authors: Chetta M; Laboratory di Biologia Molecolare UOC di Anatomia Patologica, Azienda Ospedaliero Universitaria San Giovanni di Dio Ruggi d'Aragona Scuola Medica Salernitana, 84121 Salerno, Italy., Lattarulo S; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy., Stasi M; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy., Krylovska Y; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy., Lastella P; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Resta N; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Palumbo P; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Bukvic N; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.
Source: Genes [Genes (Basel)] 2026 Jun 21; Vol. 17 (6). Date of Electronic Publication: 2026 Jun 21.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42353881
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chetta+M%22">Chetta M</searchLink>; Laboratory di Biologia Molecolare UOC di Anatomia Patologica, Azienda Ospedaliero Universitaria San Giovanni di Dio Ruggi d'Aragona Scuola Medica Salernitana, 84121 Salerno, Italy.<br /><searchLink fieldCode="AU" term="%22Lattarulo+S%22">Lattarulo S</searchLink>; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Stasi+M%22">Stasi M</searchLink>; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Krylovska+Y%22">Krylovska Y</searchLink>; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Lastella+P%22">Lastella P</searchLink>; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Resta+N%22">Resta N</searchLink>; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Palumbo+O%22">Palumbo O</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Palumbo+P%22">Palumbo P</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Bukvic+N%22">Bukvic N</searchLink>; Medical Genetics, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.; Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jun 21; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 Jun 21.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Case Reports
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42353881
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/genes17060722
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chetta M
      – PersonEntity:
          Name:
            NameFull: Lattarulo S
      – PersonEntity:
          Name:
            NameFull: Stasi M
      – PersonEntity:
          Name:
            NameFull: Krylovska Y
      – PersonEntity:
          Name:
            NameFull: Lastella P
      – PersonEntity:
          Name:
            NameFull: Resta N
      – PersonEntity:
          Name:
            NameFull: Palumbo O
      – PersonEntity:
          Name:
            NameFull: Palumbo P
      – PersonEntity:
          Name:
            NameFull: Bukvic N
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 21
              M: 06
              Text: 2026 Jun 21
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2073-4425
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Genes
              Type: main
ResultId 1