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Neurofibromatosis

  • Amanda BergnerEmail author
Chapter

Abstract

Neurofibromatosis 1 (NF1) is one of the most common inherited neurologic diseases. NF1 is due to autosomal dominant mutations in the Nf1 gene; fifty percent of cases have de novo mutations. Mutations appear to be fully penetrant with intra- and inter-familial variability. Genetic counseling can be complicated by the possibility of mosaicism. People with NF1 often experience shame about their own condition and guilt of passing on the disorder. Genetic counseling should address the psychosocial aspects of the disease as well as the physical.

Keywords

Genetic Testing Genetic Counselor Preimplantation Genetic Diagnosis Malignant Peripheral Nerve Sheath Tumor Genetic Test Result 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Neurofibromatosis 1 (NF1) Part 1 (MOV 373,086 kb)

Neurofibromatosis 1 (NF1) Part 2 (MOV 297,172 kb)

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of NeurologyJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreUSA

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