Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

M Horvers, A K Anttonen, A E Lehesjoki, E Morava, Saskia Wortmann (Co-author), S Vermeer, B P van de Warrenburg, M A Willemsen

    Research output: Contribution to journalOriginal Articlepeer-review

    16 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)199-203
    JournalEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
    Volume17
    Issue number2
    DOIs
    Publication statusPublished - 2013

    Keywords

    • IMAGING FEATURES
    • GENE
    • CATARACT
    • PEDIGREE
    • MYOPATHY
    • 5Q31

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