View in EDS

Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.

Saved in:
Bibliographic Details
Title: Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.
Authors: Ogawa Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Kato S; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Shiraga K; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato M; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Inuzuka R; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
Source: Clinical genetics [Clin Genet] 2026 Aug; Vol. 110 (2), pp. 236-241. Date of Electronic Publication: 2026 Apr 08.
Publication Type: Journal Article; Case Reports
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41952398
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ogawa+Y%22">Ogawa Y</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kato+S%22">Kato S</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shiraga+K%22">Shiraga K</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kato+M%22">Kato M</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.; Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Inuzuka+R%22">Inuzuka R</searchLink>; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2026 Aug; Vol. 110 (2), pp. 236-241. <i>Date of Electronic Publication: </i>2026 Apr 08.
– 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="%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=41952398
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.70170
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 236
    Titles:
      – TitleFull: Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ogawa Y
      – PersonEntity:
          Name:
            NameFull: Kato S
      – PersonEntity:
          Name:
            NameFull: Shiraga K
      – PersonEntity:
          Name:
            NameFull: Kato M
      – PersonEntity:
          Name:
            NameFull: Inuzuka R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2026 Aug
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 110
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1