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

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...

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Autors principals:	Kemal Ozyurt, Asli Subasioglu, Perihan Ozturk, Rahime Inci, Fuat Ozkan, Elena Bueno, Javier Cañueto, Rogelio González Sarmiento
Format:	Artigo
Idioma:	Inglês
Publicat:	Wolters Kluwer Medknow Publications 2015-01-01
Col·lecció:	Indian Journal of Dermatology
Matèries:	Conradi-Hünermann-Happle syndrome emopamil binding protein mutation plaque-type psoriasis X-linked dominant chondrodysplasia punctata
Accés en línia:	http://www.e-ijd.org/article.asp?issn=0019-5154;year=2015;volume=60;issue=2;spage=216;epage=216;aulast=Ozyurt
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