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)
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