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

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Bibliographic Details
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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Description
ISSN:13816810
DOI:10.1080/13816810.2025.2505913