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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Dermatol Case Rep
Prif Awduron: De Leonibus, Chiara, Lembo, Claudio, Santantonio, Alfredo, Fioretti, Tiziana, Rojo, Silvana, Salvatore, Francesco, De Vivo, Massimiliano, Esposito, Gabriella, Giliberti, Paolo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Specjalisci Dermatolodzy 2015
Pynciau:
Article
Mynediad Ar-lein: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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