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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Detalles Bibliográficos
Autores principales: Ozyurt, Kemal, Subasioglu, Asli, Ozturk, Perihan, Inci, Rahime, Ozkan, Fuat, Bueno, Elena, Cañueto, Javier, González Sarmiento, Rogelio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
E-IJD Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372958/
https://www.ncbi.nlm.nih.gov/pubmed/25814754
http://dx.doi.org/10.4103/0019-5154.152570

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372958/
https://www.ncbi.nlm.nih.gov/pubmed/25814754
http://dx.doi.org/10.4103/0019-5154.152570

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