Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient (Q24655837)

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Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
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    Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient (English)
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    K M Lower
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    R C M Hennekam
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    H Van Esch
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    A Mégarbané
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    S A Lynch
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    G Turner
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    March 2006
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    43
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    3
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    238-43
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