Harlequin ichthyosis - a rare genetic disorder : a case report
Harlequin Ichthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised making the infant prone to infections and dehydration...
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Wolters Kluwer Medknow Publications
|Series:||National Journal of Clinical Anatomy|