View in EDS HTML Full Text PDF Full Text

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

Saved in:
Bibliographic Details
Title: Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
Authors: Chen J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Gao D; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Hu J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Xu K; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Gu W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Li J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. 154899649@qq.com., Zhu H; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. zhuyan44@163.com.
Source: BMC pediatrics [BMC Pediatr] 2025 Nov 04; Vol. 25 (1), pp. 905. Date of Electronic Publication: 2025 Nov 04.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr 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: 41188742
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Gao+D%22">Gao D</searchLink>; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Hu+J%22">Hu J</searchLink>; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Xu+K%22">Xu K</searchLink>; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.<br /><searchLink fieldCode="AU" term="%22Gu+W%22">Gu W</searchLink>; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. 154899649@qq.com.<br /><searchLink fieldCode="AU" term="%22Zhu+H%22">Zhu H</searchLink>; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. zhuyan44@163.com.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2025 Nov 04; Vol. 25 (1), pp. 905. <i>Date of Electronic Publication: </i>2025 Nov 04.
– 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967804 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41188742
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12887-025-06272-6
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 905
    Titles:
      – TitleFull: Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chen J
      – PersonEntity:
          Name:
            NameFull: Gao D
      – PersonEntity:
          Name:
            NameFull: Hu J
      – PersonEntity:
          Name:
            NameFull: Xu K
      – PersonEntity:
          Name:
            NameFull: Gu W
      – PersonEntity:
          Name:
            NameFull: Li J
      – PersonEntity:
          Name:
            NameFull: Zhu H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 11
              Text: 2025 Nov 04
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1471-2431
          Numbering:
            – Type: volume
              Value: 25
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC pediatrics
              Type: main
ResultId 1