Delineation of the clinical phenotype associated with non-mosaic type-2 <it>NF1 </it>deletions: two case reports

<p>Abstract</p> <p>Introduction</p> <p>Large deletions of the <it>NF1 </it>gene and its flanking regions are frequently associated with a severe clinical manifestation. Different types of gross <it>NF1 </it>deletion have been identified that are...

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Bibliographic Details
Main Authors: Vogt Julia, Nguyen Rosa, Kluwe Lan, Schuhmann Martin, Roehl Angelika C, Mußotter Tanja, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard
Format: Article
Language:English
Published: BMC 2011-12-01
Series:Journal of Medical Case Reports
Online Access:http://www.jmedicalcasereports.com/content/5/1/577