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dc.contributor.authorGecz, J.en
dc.contributor.authorTurner, G.en
dc.contributor.authorNelson, J.en
dc.contributor.authorPartington, M.en
dc.identifier.citationEuropean Journal of Human Genetics, 2006; 14(12):1233-1237en
dc.description.abstractBörjeson-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.en
dc.description.statementofresponsibilityGécz, Jozef; Turner, Gillian; Nelson, John; Partington, Michaelen
dc.publisherNature Publishing Groupen
dc.subjectHumans; Abnormalities, Multiple; Sex Chromosome Disorders; Syndrome; DNA; Intellectual Disabilityen
dc.titleThe Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)en
dc.typeJournal articleen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Molecular and Biomedical Science publications

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