Harlequin ichthyosis - PowerPoint PPT Presentation

The Genetics of Ichthyosis

The Genetics of Ichthyosis. Sherri J. Bale, Ph.D., FACMG Clinical Director, GeneDx. What we’re going to talk about A primer on how ichthyosis genetically occurs, the chances of passing it along and what genetic tests are available and how they are administered.

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Harlequin Ichthyosis: Causes, symptoms, complications and treatment.

Harlequin ichthyosis is a rare, congenital skin condition. It affects the skin over almost the whole body of an infant, and carries a high risk of neonatal death due to severe and life-threatening infection. Harlequin ichthyosis occurs in approximately one in every 500,000 people. Males and females both are equally vulnerable to this disorder. To know more visit here: www.lazoi.com

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