The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
Keywords: CHILD, Congenital hemidysplasia, Ichthyosis and Limb Defects; EBP, emopamil binding protein; NSDHL, NAD(P)H steroid dehydrogenase-like; SC, stratum corneum; SG, stratum granulosum; SS, stratum spinosumIchthyosis; Lipids; X-inactivation; CHILD syndrome; St