title: 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
authors.forename: Karen M
authors.initials: KM
authors.lastname: Lower
authors.forename: Göran
authors.initials: G
authors.lastname: Solders
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Bondeson
authors.forename: John
authors.initials: J
authors.lastname: Nelson
authors.forename: Arne
authors.initials: A
authors.lastname: Brun
authors.forename: Joanna
authors.initials: J
authors.lastname: Crawford
authors.forename: Gunilla
authors.initials: G
authors.lastname: Malm
authors.forename: Mats
authors.initials: M
authors.lastname: Börjeson
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: Michael
authors.initials: M
authors.lastname: Partington
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
mesh_terms: D001120:Arginine / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013577:Syndrome
chemical_list: D001120:Arginine