View in EDS

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Saved in:
Bibliographic Details
Title: PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
Authors: Hayasaka K; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. hayasaka@med.id.yamagata-u.ac.jp., Sasaki A; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Kishikawa Y; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Abiko Y; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan., Arakaki H; Department of Neonatology, Okinawa Prefectural Chubu Hospital, Uruma, Okinawa, Japan., Yasukohchi M; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Chiba, Japan., Takayama J; Department of AI and Innovative Medicine, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan., Tamiya G; Department of AI and Innovative Medicine, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan., Hasegawa H; Department of Neonatology, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan., Ueda A; Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan., Osawa M; Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan., Mitsui T; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Source: Journal of human genetics [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 203-208. Date of Electronic Publication: 2025 Nov 05.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41188450
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hayasaka+K%22">Hayasaka K</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. hayasaka@med.id.yamagata-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Sasaki+A%22">Sasaki A</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Kishikawa+Y%22">Kishikawa Y</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Abiko+Y%22">Abiko Y</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.<br /><searchLink fieldCode="AU" term="%22Arakaki+H%22">Arakaki H</searchLink>; Department of Neonatology, Okinawa Prefectural Chubu Hospital, Uruma, Okinawa, Japan.<br /><searchLink fieldCode="AU" term="%22Yasukohchi+M%22">Yasukohchi M</searchLink>; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Takayama+J%22">Takayama J</searchLink>; Department of AI and Innovative Medicine, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Tamiya+G%22">Tamiya G</searchLink>; Department of AI and Innovative Medicine, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Department of Rare Disease Genomics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hasegawa+H%22">Hasegawa H</searchLink>; Department of Neonatology, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ueda+A%22">Ueda A</searchLink>; Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.<br /><searchLink fieldCode="AU" term="%22Osawa+M%22">Osawa M</searchLink>; Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, 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="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 203-208. <i>Date of Electronic Publication: </i>2025 Nov 05.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41188450
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s10038-025-01429-8
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 203
    Titles:
      – TitleFull: PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hayasaka K
      – PersonEntity:
          Name:
            NameFull: Sasaki A
      – PersonEntity:
          Name:
            NameFull: Kishikawa Y
      – PersonEntity:
          Name:
            NameFull: Abiko Y
      – PersonEntity:
          Name:
            NameFull: Arakaki H
      – PersonEntity:
          Name:
            NameFull: Yasukohchi M
      – PersonEntity:
          Name:
            NameFull: Takayama J
      – PersonEntity:
          Name:
            NameFull: Tamiya G
      – PersonEntity:
          Name:
            NameFull: Hasegawa H
      – PersonEntity:
          Name:
            NameFull: Ueda A
      – PersonEntity:
          Name:
            NameFull: Osawa M
      – PersonEntity:
          Name:
            NameFull: Mitsui T
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1435-232X
          Numbering:
            – Type: volume
              Value: 71
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Journal of human genetics
              Type: main
ResultId 1