A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

N. Sabherwal, R. J. Blaschke, A. Marchini, D. Heine-Suner, J. Rosell, J. Ferragut, W. F. Blum, G. Rappold

    Research output: Contribution to journalArticlepeer-review

    Original languageEnglish
    Pages (from-to)e83
    JournalJournal of Medical Genetics
    Volume41
    Issue number6
    Publication statusPublished - Jun 2004

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