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Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome
Conradi-Hünermann-Happle syndrome, or X-linked Dominant Chondrodysplasia Punctata Type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform e...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4449285/ https://ncbi.nlm.nih.gov/pubmed/25846959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36899 |
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