Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

Lyn S. Chitty, Rory McCrimmon, I. Karen Temple, Isobel M. Russell-Eggitt, Michael Baraitser

    Research output: Contribution to journalArticle

    10 Citations (Scopus)

    Abstract

    We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype
    Original languageEnglish
    Pages (from-to)417-420
    Number of pages4
    JournalAmerican Journal of Medical Genetics Part A
    Volume40
    Issue number4
    DOIs
    Publication statusPublished - 15 Sep 1991

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