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Case Report - (2015) Volume 4, Issue 3

A Novel Deep Intronic Mutation Introducing a Cryptic Exon Causing Neurofibromatosis Type 1 in a Family with Highly Variable Phenotypes: A Case Study

Eva Kathrine Svaasand1, Lars Fredrik Engebretsen2, Trond Ludvigsen1, Wenche Brechan1 and Wenche Sjursen1,3*
1Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway
2Centre for Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
3Department of Laboratory Medicine Children’s and Women’s Health, Norwegian University of Science and Technology, Trondheim, Norway
*Corresponding Author: