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Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

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Title: Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.
Authors: López-Font, Francisco J.1 (AUTHOR), De Arrigunaga, Sofia1 (AUTHOR), Santos da Cruz, Natasha F.1 (AUTHOR), Fan, Jason C.1 (AUTHOR), Shah, Serena M.1 (AUTHOR), Hudson, Julia L.1 (AUTHOR), Borja, Nicholas A.2 (AUTHOR), Barbouth, Deborah S.2 (AUTHOR), Berrocal, Audina M.1 (AUTHOR) Aberrocal@med.miami.edu
Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p489-494. 6p.
Database: Academic Search Ultimate
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  Data: Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.
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  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Oct2025, Vol. 46 Issue 5, p489-494. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188157258
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        Value: 10.1080/13816810.2025.2505913
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              Text: Oct2025
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