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 FJ; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., De Arrigunaga S; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., Santos da Cruz NF; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., Fan JC; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., Shah SM; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., Hudson JL; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA., Borja NA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Berrocal AM; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Oct; Vol. 46 (5), pp. 489-494. Date of Electronic Publication: 2025 May 29.
Publication Type: Journal Article; Case Reports; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1744-5094
DOI:10.1080/13816810.2025.2505913