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. |
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| 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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