Skip to main content

2 Result(s)

within E van de Vosse Remove this filter Gene Function Remove this filter

and

  1. No Access

    Article

    Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

    X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal degeneration localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster pre...

    E. van de Vosse, Brunella Franco, P. van der Bent, Eugenio Montini… in Human Genetics (1997)

  2. No Access

    Article

    Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

    X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13–p22.2. By analyzin...

    J. C. Oosterwijk, Gabriela Richard, Michiel J. R. van der Wielen… in Human Genetics (1997)