Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis

• Main Authors: Kemal Ozyurt (Author), Asli Subasioglu (Author), Perihan Ozturk (Author), Rahime Inci (Author), Fuat Ozkan (Author), Elena Bueno (Author), Javier Cañueto (Author), Rogelio González Sarmiento (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less...