Article
Harlequin Ichthyosis - A Case Report.
Irish medical journal - 8 Aug 2017
Ugezu C H, Mazumdar A, Dunn E, Das A
Abstract excerpt
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the...
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