Article
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Orphanet journal of rare diseases - 5 Feb 2021
Chi Young-In, Stodola Timothy J, De Assuncao Thiago M, Leverence Elise N, Tripathi Swarnendu, Dsouza Nikita R, Mathison Angela J, Basel Donald G, Volkman Brian F, Smith Brian C, Lomberk Gwen, Zimmermann Michael T, Urrutia Raul
Abstract excerpt
BACKGROUND: Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese traditional theatrical art named kabuki. The most frequent cause of this syndrome is mutations in the H3K4 family of histone methyltransferases while a smaller percentage results...
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