Article

A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular Abnormalities

2024-04-25

Abstract excerpt

<title>Abstract</title> <p><bold>Objective: </bold>By summarizing the clinical characteristics and genetic variations, this study aims to report a case of one child with type I Kabuki syndrome (KS), and to analyze the features and frequency of ocular abnormalities in KS through a retrospective literature review. <bold>Methods:</bold> (1) The study focused on a child with KS, collecting clinical data and conductin...

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Literature Corpus work: 4c5da851-8b8a-5482-ba53-bc8165315a69
DOI: 10.21203/rs.3.rs-4277300/v1

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