title: The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
abstract: Börjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.
authors.affiliation: Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. jozef.gecz@adelaide.edu.au
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: John
authors.initials: J
authors.lastname: Nelson
authors.forename: Michael
authors.initials: M
authors.lastname: Partington
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000235:genetics*; D013577:Syndrome
chemical_list: D004247:DNA