View in EDS PDF Full Text

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Saved in:
Bibliographic Details
Title: Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
Authors: Graul-Neumann LM; Ambulantes Gesundheitszentrum Humangenetik, Würzburg, Germany., Klopocki E; Institute of Human Genetics, University of Würzburg, Würzburg, Germany., Adolphs N; Department of Maxillo-Facial Surgery, Würzburg, Germany., Mensah MA; Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Würzburg, Germany., Kress W; Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
Source: Molecular syndromology [Mol Syndromol] 2017 Mar; Vol. 8 (2), pp. 93-97. Date of Electronic Publication: 2017 Jan 13.
Publication Type: Journal Article
Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 28611549
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Graul-Neumann+LM%22">Graul-Neumann LM</searchLink>; Ambulantes Gesundheitszentrum Humangenetik, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Klopocki+E%22">Klopocki E</searchLink>; Institute of Human Genetics, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Adolphs+N%22">Adolphs N</searchLink>; Department of Maxillo-Facial Surgery, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mensah+MA%22">Mensah MA</searchLink>; Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kress+W%22">Kress W</searchLink>; Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2017 Mar; Vol. 8 (2), pp. 93-97. <i>Date of Electronic Publication: </i>2017 Jan 13.
– 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="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28611549
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1159/000455028
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 93
    Titles:
      – TitleFull: Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Graul-Neumann LM
      – PersonEntity:
          Name:
            NameFull: Klopocki E
      – PersonEntity:
          Name:
            NameFull: Adolphs N
      – PersonEntity:
          Name:
            NameFull: Mensah MA
      – PersonEntity:
          Name:
            NameFull: Kress W
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2017 Mar
              Type: published
              Y: 2017
          Identifiers:
            – Type: issn-print
              Value: 1661-8769
          Numbering:
            – Type: volume
              Value: 8
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Molecular syndromology
              Type: main
ResultId 1