Condition: Borjeson-Forssman-Lehmann syndrome


rs104894917 in PHF6 gene and Borjeson-Forssman-Lehmann syndrome PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 23229552 2013 PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 15994862 2006 Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.