Adelaide Research & Scholarship
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https://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 |
| DOI: | 10.1038/sj.ejhg.5201639 |
| Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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