A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular Abnormalities
Preprint in Research Square (April 2024)
The most recent citing publications are shown below. View all 18 publications that cite this research output on Dimensions.
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Article in Graefe's Archive for Clinical and Experimental Ophthalmology (January 2024)
Disorders of histone methylation: Molecular basis and clinical syndromes
Article in Clinical Genetics (July 2022)