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 journalArticlepeer-review

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

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