View in EDS HTML Full Text PDF Full Text

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Saved in:
Bibliographic Details
Title: Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
Authors: Tawfik CA; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt., Essawi ML; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt., Nowara M; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt.; Department of Ophthalmology, Electricity hospital, Cairo, Egypt., Mohsen R; Department of Ophthalmology, Ain Shams University, Cairo, Egypt., Elbagoury NM; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt.
Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Jun; Vol. 46 (3), pp. 305-312. Date of Electronic Publication: 2025 Mar 05.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40044632
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tawfik+CA%22">Tawfik CA</searchLink>; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Nowara+M%22">Nowara M</searchLink>; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt.; Department of Ophthalmology, Electricity hospital, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Mohsen+R%22">Mohsen R</searchLink>; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elbagoury+NM%22">Elbagoury NM</searchLink>; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2025 Jun; Vol. 46 (3), pp. 305-312. <i>Date of Electronic Publication: </i>2025 Mar 05.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40044632
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1080/13816810.2025.2473972
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 305
    Titles:
      – TitleFull: Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tawfik CA
      – PersonEntity:
          Name:
            NameFull: Essawi ML
      – PersonEntity:
          Name:
            NameFull: Nowara M
      – PersonEntity:
          Name:
            NameFull: Mohsen R
      – PersonEntity:
          Name:
            NameFull: Elbagoury NM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2025 Jun
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1744-5094
          Numbering:
            – Type: volume
              Value: 46
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Ophthalmic genetics
              Type: main
ResultId 1