Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

• मुख्य लेखकों: Murat Durdu (लेखक), Sara Missaglia (लेखक), Laura Moro (लेखक), Daniela Tavian (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets...