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Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishin...
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| 出版年: | J Dermatol Case Rep |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Specjalisci Dermatolodzy
2015
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4517804/ https://ncbi.nlm.nih.gov/pubmed/26236414 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2015.1202 |
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