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Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.

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Title: Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
Authors: Koce, Maša1 (AUTHOR), Fakin, Ana2 (AUTHOR), Markelj, Špela2 (AUTHOR), Debeljak, Maruša3 (AUTHOR), Kovač, Jernej3 (AUTHOR), Lisec, Ajda4 (AUTHOR), Bertok, Sara5 (AUTHOR), Meglič, Anamarija6 (AUTHOR) anamarija.meglic@mf.uni-lj.si
Source: Ophthalmic Genetics. Jun2025, Vol. 46 Issue 3, p285-292. 8p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 185198665
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
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  Data: <searchLink fieldCode="AR" term="%22Koce%2C+Maša%22">Koce, Maša</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fakin%2C+Ana%22">Fakin, Ana</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Markelj%2C+Špela%22">Markelj, Špela</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Debeljak%2C+Maruša%22">Debeljak, Maruša</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kovač%2C+Jernej%22">Kovač, Jernej</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lisec%2C+Ajda%22">Lisec, Ajda</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bertok%2C+Sara%22">Bertok, Sara</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Meglič%2C+Anamarija%22">Meglič, Anamarija</searchLink><relatesTo>6</relatesTo> (AUTHOR)<i> anamarija.meglic@mf.uni-lj.si</i>
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  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Jun2025, Vol. 46 Issue 3, p285-292. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185198665
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/13816810.2025.2462987
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      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 8
        StartPage: 285
    Titles:
      – TitleFull: Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
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            NameFull: Koce, Maša
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            NameFull: Fakin, Ana
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            NameFull: Markelj, Špela
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            NameFull: Debeljak, Maruša
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            NameFull: Kovač, Jernej
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            NameFull: Lisec, Ajda
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            NameFull: Bertok, Sara
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            NameFull: Meglič, Anamarija
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            – D: 01
              M: 06
              Text: Jun2025
              Type: published
              Y: 2025
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              Value: 46
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              Value: 3
          Titles:
            – TitleFull: Ophthalmic Genetics
              Type: main
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