A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

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Title: A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
Authors: Javidi, Eileen1,2 (AUTHOR), Javidi, Simon1,2 (AUTHOR), Antaki, Fares1,2 (AUTHOR), Campeau, Philippe M.3 (AUTHOR), Ospina, Luis H.1,2 (AUTHOR) lhospina@gmail.com
Source: Ophthalmic Genetics. Feb2025, Vol. 46 Issue 1, p92-100. 9p.
Database: Academic Search Ultimate
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  Data: A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
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  Data: <searchLink fieldCode="AR" term="%22Javidi%2C+Eileen%22">Javidi, Eileen</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Javidi%2C+Simon%22">Javidi, Simon</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Antaki%2C+Fares%22">Antaki, Fares</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campeau%2C+Philippe+M%2E%22">Campeau, Philippe M.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ospina%2C+Luis+H%2E%22">Ospina, Luis H.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> lhospina@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Feb2025, Vol. 46 Issue 1, p92-100. 9p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183684412
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/13816810.2024.2438652
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      – Code: eng
        Text: English
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      – TitleFull: A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
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            NameFull: Javidi, Eileen
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            NameFull: Javidi, Simon
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            NameFull: Antaki, Fares
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            NameFull: Campeau, Philippe M.
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              M: 02
              Text: Feb2025
              Type: published
              Y: 2025
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