2. Academic Validation
  3. The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

  • Eur J Hum Genet. 2006 Dec;14(12):1233-7. doi: 10.1038/sj.ejhg.5201639.
Jozef Gécz 1,  Gillian Turner,  John Nelson,  Michael Partington
Affiliations

Affiliation

  • 1 Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. jozef.gecz@adelaide.edu.au
PMID: 16912705 DOI: 10.1038/sj.ejhg.5201639
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.

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