Article
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Clinical genetics - 1 Mar 2004
Turner G, Lower K M, White S M, Delatycki M, Lampe A K, Wright M, Smith J Clayton, Kerr B, Schelley S, Hoyme H E, De Vries B B A, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M
Abstract excerpt
The usual description of the Börjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history...
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