Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

• Main Authors: Ausavarat S., Tanpaiboon P., Tongkobpetch S., Suphapeetiporn K., Shotelersuk V.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-47749112385&partnerID=40&md5=9385034db273a38acee3c9a352a055f8; http://cmuir.cmu.ac.th/handle/6653943832/2403
• Institution: Chiang Mai University

Conradi-Hünermann-Happle syndrome, also known as chondrodysplasia punctata type 2 (CDPX2), is an X-linked dominant disorder characterized by skin defects, skeletal and ocular abnormalities. CDPX2 was shown to be caused by mutations in the gene encoding emopamil binding protein (EBP). At least 58 dif...