authors
- Kannu, P
- Nour, M
- Irving, M
- Xie, J
- Loder, D
- Lai, J
- Islam, O
- MacKenzie, Jennifer
- Messiaen, L
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
Journal Articles
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Overview
status
publication date
- February 2013
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Child, Preschool (MeSH)
- DNA Mutational Analysis (MeSH)
- Family (MeSH)
- Female (MeSH)
- Frameshift Mutation (MeSH)
- Ganglioneuroma (MeSH)
- Genetics & Heredity (Science Metrix)
- Humans (MeSH)
- Introns (MeSH)
- Mutation (MeSH)
- Neurofibromatosis 1 (MeSH)
- Neurofibromin 1 (MeSH)
- RNA Splicing (MeSH)
- Spinal Neoplasms (MeSH)
published in
- Clinical Genetics Journal