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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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| Materias: | |
| 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 |