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

Jozef Gécz; Gillian Turner; John Nelson; Michael Partington

doi:10.1038/sj.ejhg.5201639

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.

Language	English
Pages	1233-1237
Number of pages	5
Journal	European Journal of Human Genetics
Volume	14
Issue number	12
DOIs	10.1038/sj.ejhg.5201639
Publication status	Published - 1 Dec 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

Gécz, J., Turner, G., Nelson, J., & Partington, M. (2006). The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). European Journal of Human Genetics, 14(12), 1233-1237. https://doi.org/10.1038/sj.ejhg.5201639

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Access to Document

10.1038/sj.ejhg.5201639

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