Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Type: Journal article
Title: The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
Author: Gecz, J.
Turner, G.
Nelson, J.
Partington, M.
Citation: European Journal of Human Genetics, 2006; 14(12):1233-1237
Publisher: Nature Publishing Group
Issue Date: 2006
ISSN: 1018-4813
Statement of
Gécz, Jozef; Turner, Gillian; Nelson, John; Partington, Michael
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: Humans
Abnormalities, Multiple
Sex Chromosome Disorders
Intellectual Disability
DOI: 10.1038/sj.ejhg.5201639
Published version:
Appears in Collections:Aurora harvest 6
Molecular and Biomedical Science publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.