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Whole-exome sequencing for diagnosis of hereditary ichthyosis

Journal of the European Academy of Dermatology and Venereology Feb 28, 2018

Sitek JC, et al. - This study entailed estimation of the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic work-up of inherited ichthyosis. Based on the findings, WES appeared an effective tool in disclosing the molecular cause of patients with hereditary ichthyosis seen in clinical practice. WES was recommended to be considered a first-tier genetic test in these patients.
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