View in EDS

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.

Saved in:
Bibliographic Details
Title: Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
Authors: Blanc, Albin1, albin.blanc@gmail.com, Bonnet, Céline2,3, Wandzel, Marion2, Roth, Virginie2, Duffourd, Yannis4,5, Safraou, Hanna4,5, Leheup, Bruno3, Muller, Florence6, D Colne, Julie7, Feillet, François3,8, Schmitt, Emmanuelle9, Castro, Matheus10,11, Savatt, Jullian12, Burcheri, Adriano13, Nemos, Christophe14,15,16,17, Philippe, Christophe4,5, Lambert, Laëtitia1,3
Source: American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-6, 6p
Database: Applied Science & Technology Source
FullText Text:
  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 178945272
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Blanc%2C+Albin%22">Blanc, Albin</searchLink><relatesTo>1</relatesTo>, <i>albin.blanc@gmail.com</i><br /><searchLink fieldCode="AU" term="%22Bonnet%2C+Céline%22">Bonnet, Céline</searchLink><relatesTo>2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Wandzel%2C+Marion%22">Wandzel, Marion</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Roth%2C+Virginie%22">Roth, Virginie</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Duffourd%2C+Yannis%22">Duffourd, Yannis</searchLink><relatesTo>4,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Safraou%2C+Hanna%22">Safraou, Hanna</searchLink><relatesTo>4,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Leheup%2C+Bruno%22">Leheup, Bruno</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Muller%2C+Florence%22">Muller, Florence</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AU" term="%22D+Colne%2C+Julie%22">D Colne, Julie</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AU" term="%22Feillet%2C+François%22">Feillet, François</searchLink><relatesTo>3,8</relatesTo><br /><searchLink fieldCode="AU" term="%22Schmitt%2C+Emmanuelle%22">Schmitt, Emmanuelle</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AU" term="%22Castro%2C+Matheus%22">Castro, Matheus</searchLink><relatesTo>10,11</relatesTo><br /><searchLink fieldCode="AU" term="%22Savatt%2C+Jullian%22">Savatt, Jullian</searchLink><relatesTo>12</relatesTo><br /><searchLink fieldCode="AU" term="%22Burcheri%2C+Adriano%22">Burcheri, Adriano</searchLink><relatesTo>13</relatesTo><br /><searchLink fieldCode="AU" term="%22Nemos%2C+Christophe%22">Nemos, Christophe</searchLink><relatesTo>14,15,16,17</relatesTo><br /><searchLink fieldCode="AU" term="%22Philippe%2C+Christophe%22">Philippe, Christophe</searchLink><relatesTo>4,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Lambert%2C+Laëtitia%22">Lambert, Laëtitia</searchLink><relatesTo>1,3</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Sep2024, Vol. 194 Issue 9, p1-6, 6p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=178945272
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.63642
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 1
    Titles:
      – TitleFull: Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Blanc, Albin
      – PersonEntity:
          Name:
            NameFull: Bonnet, Céline
      – PersonEntity:
          Name:
            NameFull: Wandzel, Marion
      – PersonEntity:
          Name:
            NameFull: Roth, Virginie
      – PersonEntity:
          Name:
            NameFull: Duffourd, Yannis
      – PersonEntity:
          Name:
            NameFull: Safraou, Hanna
      – PersonEntity:
          Name:
            NameFull: Leheup, Bruno
      – PersonEntity:
          Name:
            NameFull: Muller, Florence
      – PersonEntity:
          Name:
            NameFull: D Colne, Julie
      – PersonEntity:
          Name:
            NameFull: Feillet, François
      – PersonEntity:
          Name:
            NameFull: Schmitt, Emmanuelle
      – PersonEntity:
          Name:
            NameFull: Castro, Matheus
      – PersonEntity:
          Name:
            NameFull: Savatt, Jullian
      – PersonEntity:
          Name:
            NameFull: Burcheri, Adriano
      – PersonEntity:
          Name:
            NameFull: Nemos, Christophe
      – PersonEntity:
          Name:
            NameFull: Philippe, Christophe
      – PersonEntity:
          Name:
            NameFull: Lambert, Laëtitia
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: Sep2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 15524825
          Numbering:
            – Type: volume
              Value: 194
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
ResultId 1