Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient

Jo Crawford, Karen Lower, R Hennekam, H van Esch, A Megarbane, SA Lynch, Gillian Turner, Jozef Gecz

    Research output: Contribution to journalArticle

    28 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)238-243
    Number of pages6
    JournalJournal of Medical Genetics
    Volume43
    Issue number3
    Publication statusPublished - 2006

    Cite this

    Crawford, J., Lower, K., Hennekam, R., van Esch, H., Megarbane, A., Lynch, SA., Turner, G., & Gecz, J. (2006). Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient. Journal of Medical Genetics, 43(3), 238-243.