View in EDS

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

Saved in:
Bibliographic Details
Title: An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
Authors: Au CW; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng SS; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng TH; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Chan PKJ; Department of Radiology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ho LI; Department of Dentistry & Maxillofacial Surgery, Hong Kong Childrens's Hospital, Hong Kong SAR, China., Cheng JY; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Yeung WW; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ou M; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Tse VC; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China., Wong HC; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China., Luk HM; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 749-754. Date of Electronic Publication: 2025 Nov 01.
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: 41174912
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Au+CW%22">Au CW</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Cheng+SS%22">Cheng SS</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Cheng+TH%22">Cheng TH</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+PKJ%22">Chan PKJ</searchLink>; Department of Radiology, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Ho+LI%22">Ho LI</searchLink>; Department of Dentistry & Maxillofacial Surgery, Hong Kong Childrens's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Cheng+JY%22">Cheng JY</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yeung+WW%22">Yeung WW</searchLink>; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Ou+M%22">Ou M</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Tse+VC%22">Tse VC</searchLink>; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wong+HC%22">Wong HC</searchLink>; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.
– 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 Mar; Vol. 200 (3), pp. 749-754. <i>Date of Electronic Publication: </i>2025 Nov 01.
– 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=41174912
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.64292
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 749
    Titles:
      – TitleFull: An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Au CW
      – PersonEntity:
          Name:
            NameFull: Cheng SS
      – PersonEntity:
          Name:
            NameFull: Cheng TH
      – PersonEntity:
          Name:
            NameFull: Chan PKJ
      – PersonEntity:
          Name:
            NameFull: Ho LI
      – PersonEntity:
          Name:
            NameFull: Cheng JY
      – PersonEntity:
          Name:
            NameFull: Yeung WW
      – PersonEntity:
          Name:
            NameFull: Ou M
      – PersonEntity:
          Name:
            NameFull: Tse VC
      – PersonEntity:
          Name:
            NameFull: Wong HC
      – PersonEntity:
          Name:
            NameFull: Luk HM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2026 Mar
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 200
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1