characterised by linear ichthyosis, chondrodysplasia punctata, short stature, cataract
X-linked dominant inheritance - causative mutations have been identified in a large number of patients in the gene for emopamil binding protein (this gene is located on the short arm of Xp11.22-23 and also acts as a D8-D7 sterol isomerase which plays a crucial role in cholesterol biosynthesis)
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page