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1.
Rizzo W, Jenkens S, Boucher P. Recognition and Diagnosis of Neuro-Ichthyotic Syndromes. Seminars in Neurology [Internet]. 2012 [cited 2016 Sept 9];32(01):075–84. Available from: http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1306390
