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The role of Kabuki Syndrome genes <i>KMT2D</i> and <i>KDM6A</i> in development: Analysis in Human sequencing data and compared to mice and zebrafish

2020-04-04

Abstract excerpt

KMT2D and KDM6A are epigenetic regulators that have been implicated in Kabuki Syndrome, a rare congenital birth defect with multiple tissue and organ abnormalities, including craniofacial and heart defects. Our previous study identified human families with mutations in the epigenetic modifiers KMT2D and KDM6A, which is implicated in 32% and 10% of Kabuki Syndrome patients respectively. To understand the connectio...

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Literature Corpus work
f5ef4626-ce60-5229-9785-bbed42c48cdc
DOI
10.1101/2020.04.03.024646
Open publication

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The role of Kabuki Syndrome genes <i>KMT2D</i> and <i>KDM6A</i> in development: Analysis in Human sequencing data and compared to mice and zebrafishDOI 10.1101/2020.04.03.024646
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