View in EDS HTML Full Text PDF Full Text

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

Saved in:
Bibliographic Details
Title: Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Authors: Adutwum M; Children's Hospital Oakland Research Institute Summer Program, University of California San Francisco, San Francisco, California, USA., Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Kushner JD; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA., Khalek N; Wood Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Cristancho AG; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Burrill N; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Seifert ME; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Scarano MI; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA., Schnur RE; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA.; Cooper Medical School of Rowan University, Camden, New Jersey, USA., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Source: Clinical genetics [Clin Genet] 2023 Jan; Vol. 103 (1), pp. 97-102. Date of Electronic Publication: 2022 Sep 21.
Publication Type: Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet 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: 36071576
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Adutwum+M%22">Adutwum M</searchLink>; Children's Hospital Oakland Research Institute Summer Program, University of California San Francisco, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Hurst+A%22">Hurst A</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Mirzaa+G%22">Mirzaa G</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Kushner+JD%22">Kushner JD</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Rogers+C%22">Rogers C</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Khalek+N%22">Khalek N</searchLink>; Wood Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Cristancho+AG%22">Cristancho AG</searchLink>; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Burrill+N%22">Burrill N</searchLink>; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Seifert+ME%22">Seifert ME</searchLink>; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Scarano+MI%22">Scarano MI</searchLink>; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; Department of Pediatrics, Cooper University Health Care, Camden, New Jersey, USA.; Cooper Medical School of Rowan University, Camden, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Slavotinek+A%22">Slavotinek A</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Jan; Vol. 103 (1), pp. 97-102. <i>Date of Electronic Publication: </i>2022 Sep 21.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36071576
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.14222
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 97
    Titles:
      – TitleFull: Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Adutwum M
      – PersonEntity:
          Name:
            NameFull: Hurst A
      – PersonEntity:
          Name:
            NameFull: Mirzaa G
      – PersonEntity:
          Name:
            NameFull: Kushner JD
      – PersonEntity:
          Name:
            NameFull: Rogers C
      – PersonEntity:
          Name:
            NameFull: Khalek N
      – PersonEntity:
          Name:
            NameFull: Cristancho AG
      – PersonEntity:
          Name:
            NameFull: Burrill N
      – PersonEntity:
          Name:
            NameFull: Seifert ME
      – PersonEntity:
          Name:
            NameFull: Scarano MI
      – PersonEntity:
          Name:
            NameFull: Schnur RE
      – PersonEntity:
          Name:
            NameFull: Slavotinek A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2023 Jan
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 103
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1