Work

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

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2505913

Authors: Francisco J. López-Font, Sofia De Arrigunaga, Natasha F. Santos da Cruz, Jason C. Fan, Serena M. Shah, Julia L. Hudson, Nicholas A. Borja, Deborah S. Barbouth, Audina M. Berrocal

Institutions: University of Miami, Dr. John T. Macdonald Foundation

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: U.S. Department of Defense, Research to Prevent Blindness, National Eye Institute

Awards: G721603795, G800051844

OpenAlex ID: W4410866812

FWCI: 1.066

Cites: 26

Cited by: 2

Related to: 10