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

Jozef Gécz, Gillian Turner, John Nelson, Michael Partington

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32 Citations (Scopus)

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.

LanguageEnglish
Pages1233-1237
Number of pages5
JournalEuropean Journal of Human Genetics
Volume14
Issue number12
DOIs
Publication statusPublished - 1 Dec 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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