A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Abstract excerpt

OBJECTIVES: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion. METHODS: We devised a sensitive...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autoimmune Bullous Skin Diseases
• Share to Genetic and rare skin diseases.
• Share to Skin and Cellular Biology Research