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Article

<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

1 Jan 2010

Abstract excerpt

In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS,...

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PMID: 22190899
DOI: 10.1159/000330111

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<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in FemalesPMID 22190899Read ↗

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