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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
BACKGROUND: The term ichthyosis describes a generalized disorder of cornification characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad group of genes related to keratinocyte differentiation and epidermal barrier function have been demonstrated to play a caus...
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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4712481/ https://ncbi.nlm.nih.gov/pubmed/26762237 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0384-4 |
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