Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Abstract

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann disease, CDPX2) is characterised by short stature, stippled epiphyses, cataracts, ichthyosiform erythroderma and patchy alopecia of the scalp. The disorder is caused by mutations within the emopamil binding protein (EBP) gene encoding a 3beta-hydroxysteroid-Delta(8),Delta(7)-isomerase. The… (More)

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Cite this paper

@article{Hellenbroich2007ReducedPI, title={Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.}, author={Yorck Hellenbroich and K. H. Grzeschik and Martin Krapp and Tiantom Jarutat and Christa Lehrmann-Petersen and Karin Buiting and Gabriele Gillessen-Kaesbach}, journal={European journal of medical genetics}, year={2007}, volume={50 5}, pages={392-8} }