Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS).
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DOI: 10.1093/hmg/ddab081
Abstract: The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate-severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers, and large ears (MIM#301900). Here, we generated… read more here.
Keywords: r342x; mice; bfls; forssman lehmann ... See more keywords