Anke H A den Engelsman-van Dijk

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PURPOSE To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1). DESIGN Case series. PARTICIPANTS Seventeen persons with STGD1 carrying ABCA4 variants and 1 control participant. METHODS Haplotype analysis of 4 homozygotes and 11 heterozygotes for c.5461-10T→C and(More)
It was recently shown that duplications of the RevSex element, located 0.5 Mb upstream of SOX9, cause XX-disorder of sex development (DSD), and that deletions cause XY-DSD. To explore how a 148 kb RevSex duplication could have turned on gonadal SOX9 expression in the absence of SRY in an XX-male, we examined the chromatin landscape in primary skin(More)
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