Publications by authors named "Wim J Ijspeert"
Background: Conradi-Hünermann-Happle syndrome is caused by a mutation in the emopanil binding protein-gene (EBP), which encodes the enzyme 3β-hydroxysteroid-dehydrogenase-δ8,7 isomerase. This gene is involved in cholesterol metabolism.
Case Description: In this case report we describe a girl aged 19 months with Conradi-Hünermann-Happle syndrome.