View in EDS

Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.

Saved in:
Bibliographic Details
Title: Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
Authors: Kanno M; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Sato H; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Uemura Y; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Meguro T; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Ishigaki R; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Kawasaki N; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Abiko M; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Suzuki K; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Department of Pediatrics and Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan., Tamiya G; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan., Takayama J; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan., Kure S; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Miyagi Children's Hospital, Sendai, Japan., Saijo N; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Kikuchi A; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Mitsui T; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1384-1387. Date of Electronic Publication: 2026 Jan 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41589511
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kanno+M%22">Kanno M</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Sato+H%22">Sato H</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Uemura+Y%22">Uemura Y</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Meguro+T%22">Meguro T</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Ishigaki+R%22">Ishigaki R</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Kawasaki+N%22">Kawasaki N</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Abiko+M%22">Abiko M</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki+K%22">Suzuki K</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Department of Pediatrics and Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Tamiya+G%22">Tamiya G</searchLink>; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Takayama+J%22">Takayama J</searchLink>; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Kure+S%22">Kure S</searchLink>; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Miyagi Children's Hospital, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Saijo+N%22">Saijo N</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Kikuchi+A%22">Kikuchi A</searchLink>; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Mitsui+T%22">Mitsui T</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1384-1387. <i>Date of Electronic Publication: </i>2026 Jan 27.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41589511
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmga.70068
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1384
    Titles:
      – TitleFull: Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kanno M
      – PersonEntity:
          Name:
            NameFull: Sato H
      – PersonEntity:
          Name:
            NameFull: Uemura Y
      – PersonEntity:
          Name:
            NameFull: Meguro T
      – PersonEntity:
          Name:
            NameFull: Ishigaki R
      – PersonEntity:
          Name:
            NameFull: Kawasaki N
      – PersonEntity:
          Name:
            NameFull: Abiko M
      – PersonEntity:
          Name:
            NameFull: Suzuki K
      – PersonEntity:
          Name:
            NameFull: Numakura C
      – PersonEntity:
          Name:
            NameFull: Tamiya G
      – PersonEntity:
          Name:
            NameFull: Takayama J
      – PersonEntity:
          Name:
            NameFull: Kure S
      – PersonEntity:
          Name:
            NameFull: Saijo N
      – PersonEntity:
          Name:
            NameFull: Kikuchi A
      – PersonEntity:
          Name:
            NameFull: Mitsui T
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2026 Jun
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 200
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1