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 journalArticle

    19 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)787-789
    Number of pages3
    JournalEuropean Journal of Human Genetics
    Volume12
    Publication statusPublished - 2004

    Cite this

    Lower, K., Solders, G., Bondeson, M-L., Nelson, J., Brun, A., Crawford, J., Malm, G., Borjeson, M., Turner, G., Partington, M., & Gecz, J. (2004). 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. European Journal of Human Genetics, 12, 787-789.