Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/35531
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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
1476-5438
Statement of
Responsibility: 
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; Syndrome; DNA; Intellectual Disability
RMID: 0020061955
DOI: 10.1038/sj.ejhg.5201639
Appears in Collections:Molecular and Biomedical Science publications

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