Article
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2023
Andrews Jonathan C, Mok Jung-Wan, Kanca Oguz, Jangam Sharayu, Tifft Cynthia, Macnamara Ellen F, Russell Bianca E, Wang Lee-Kai, Nelson Stanley F, Bellen Hugo J, Yamamoto Shinya, Malicdan May Christine V, Wangler Michael F
Abstract excerpt
PURPOSE: Myocardin-related transcription factor B (MRTFB) is an important transcriptional regulator, which promotes the activity of an estimated 300 genes but is not known to underlie a Mendelian disorder. METHODS: Probands were identified through the efforts of the Undiagnosed Disease Network. Because the MRTFB protein is highly conserved between vertebrate and invertebrate model organisms, we generated a...
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