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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Bibliografiske detaljer
Udgivet i:J Dermatol Case Rep
Main Authors: De Leonibus, Chiara, Lembo, Claudio, Santantonio, Alfredo, Fioretti, Tiziana, Rojo, Silvana, Salvatore, Francesco, De Vivo, Massimiliano, Esposito, Gabriella, Giliberti, Paolo
Format: Artigo
Sprog:Inglês
Udgivet: Specjalisci Dermatolodzy 2015
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Article
Online adgang: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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