View in EDS

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

Saved in:
Bibliographic Details
Title: Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.
Authors: Htoo CEMC; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital., Ng JWZ; School of Biological Sciences, Nanyang Technological University., Sim DY; School of Biological Sciences, Nanyang Technological University., Goh J; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Lim JY; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Goh JCY; Division of Nursing, Nursing Clinical Services, KK Women's and Children's Hospital., Kam S; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre., Teo JX; SingHealth Duke-NUS Institute of Precision Medicine., Lim WK; SingHealth Duke-NUS Genomic Medicine Centre.; SingHealth Duke-NUS Institute of Precision Medicine.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School.; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Singapore., Roca X; School of Biological Sciences, Nanyang Technological University., Jamuar SS; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Institute of Precision Medicine.
Source: Clinical dysmorphology [Clin Dysmorphol] 2025 Apr 01; Vol. 34 (2), pp. 49-54. Date of Electronic Publication: 2025 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39945651
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Htoo+CEMC%22">Htoo CEMC</searchLink>; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.<br /><searchLink fieldCode="AU" term="%22Ng+JWZ%22">Ng JWZ</searchLink>; School of Biological Sciences, Nanyang Technological University.<br /><searchLink fieldCode="AU" term="%22Sim+DY%22">Sim DY</searchLink>; School of Biological Sciences, Nanyang Technological University.<br /><searchLink fieldCode="AU" term="%22Goh+J%22">Goh J</searchLink>; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.<br /><searchLink fieldCode="AU" term="%22Lim+JY%22">Lim JY</searchLink>; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.<br /><searchLink fieldCode="AU" term="%22Goh+JCY%22">Goh JCY</searchLink>; Division of Nursing, Nursing Clinical Services, KK Women's and Children's Hospital.<br /><searchLink fieldCode="AU" term="%22Kam+S%22">Kam S</searchLink>; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Genomic Medicine Centre.<br /><searchLink fieldCode="AU" term="%22Teo+JX%22">Teo JX</searchLink>; SingHealth Duke-NUS Institute of Precision Medicine.<br /><searchLink fieldCode="AU" term="%22Lim+WK%22">Lim WK</searchLink>; SingHealth Duke-NUS Genomic Medicine Centre.; SingHealth Duke-NUS Institute of Precision Medicine.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School.; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Roca+X%22">Roca X</searchLink>; School of Biological Sciences, Nanyang Technological University.<br /><searchLink fieldCode="AU" term="%22Jamuar+SS%22">Jamuar SS</searchLink>; Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital.; SingHealth Duke-NUS Institute of Precision Medicine.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229207893%22">Clinical dysmorphology</searchLink> [Clin Dysmorphol] 2025 Apr 01; Vol. 34 (2), pp. 49-54. <i>Date of Electronic Publication: </i>2025 Feb 26.
– 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="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9207893 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-5717 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209628827%22">09628827 </searchLink><i>NLM ISO Abbreviation: </i>Clin Dysmorphol <i>Subsets: </i>MEDLINE; In Process
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39945651
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1097/MCD.0000000000000518
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 49
    Titles:
      – TitleFull: Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Htoo CEMC
      – PersonEntity:
          Name:
            NameFull: Ng JWZ
      – PersonEntity:
          Name:
            NameFull: Sim DY
      – PersonEntity:
          Name:
            NameFull: Goh J
      – PersonEntity:
          Name:
            NameFull: Lim JY
      – PersonEntity:
          Name:
            NameFull: Goh JCY
      – PersonEntity:
          Name:
            NameFull: Kam S
      – PersonEntity:
          Name:
            NameFull: Teo JX
      – PersonEntity:
          Name:
            NameFull: Lim WK
      – PersonEntity:
          Name:
            NameFull: Roca X
      – PersonEntity:
          Name:
            NameFull: Jamuar SS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2025 Apr 01
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1473-5717
          Numbering:
            – Type: volume
              Value: 34
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Clinical dysmorphology
              Type: main
ResultId 1