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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...

詳細記述

保存先:
書誌詳細
出版年:J Dermatol Case Rep
主要な著者: De Leonibus, Chiara, Lembo, Claudio, Santantonio, Alfredo, Fioretti, Tiziana, Rojo, Silvana, Salvatore, Francesco, De Vivo, Massimiliano, Esposito, Gabriella, Giliberti, Paolo
フォーマット: Artigo
言語:Inglês
出版事項: Specjalisci Dermatolodzy 2015
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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