The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)
Authors:
Open Access
- 16 August 2006
- journal article
- review article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 14 (12) , 1233-1237
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.Keywords
This publication has 12 references indexed in Scilit:
- Radiation Leukemia Virus Common Integration at the Kis2 Locus: Simultaneous Overexpression of a Novel Noncoding RNA and of the Proximal Phf6 GeneJournal of Virology, 2005
- Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientJournal of Medical Genetics, 2005
- A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndromeJournal of Medical Genetics, 2004
- 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome familyEuropean Journal of Human Genetics, 2004
- The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutationsClinical Genetics, 2004
- Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndromeJournal of Medical Genetics, 2003
- Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndromeNature Genetics, 2002
- The nucleolus: the magician’s hat for cell cycle tricksCurrent Opinion in Cell Biology, 2000
- The PHD finger: Implications for chromatin-mediated transcriptional regulationTrends in Biochemical Sciences, 1995
- An X‐linked, Recessively Inherited Syndrome Characterized by Grave Mental Deficiency, Epilepsy, and Endocrine DisorderActa Medica Scandinavica, 1962