Article

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

2018-12-08

Abstract excerpt

Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D . However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized a zebrafish kmt2d null mutant that recapitulates th...

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Literature Corpus work: 43c164fc-a009-57f2-a055-378be9103707
DOI: 10.1101/489757

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