1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family.

Karen Lower, G Solders, M-L Bondeson, J Nelson, A Brun, Jo Crawford, G Malm, M Borjeson, Gillian Turner, Michael Partington, Jozef Gecz

    Research output: Contribution to journalArticlepeer-review

    26 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)787-789
    Number of pages3
    JournalEuropean Journal of Human Genetics
    Publication statusPublished - 2004

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