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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Detaylı Bibliyografya
Yayımlandı:J Dermatol Case Rep
Asıl Yazarlar: De Leonibus, Chiara, Lembo, Claudio, Santantonio, Alfredo, Fioretti, Tiziana, Rojo, Silvana, Salvatore, Francesco, De Vivo, Massimiliano, Esposito, Gabriella, Giliberti, Paolo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Specjalisci Dermatolodzy 2015
Konular:
Article
Online Erişim: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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