Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria – A Retrospective Cohort Study
This study will contribute to a better understanding of the phenotypic variability of neurofibromatosis patients. The variable expressivity seen in NF1 suggests that modifying genes may be involved in the development of particular clinical features in addition to NF1 mutations.
Authors
- Rekha Aaron (ORCID: https://orcid.org/0000-0002-6376-8071)
- Sweta Das (ORCID: https://orcid.org/0000-0001-5043-5246)
- Sony Mohan
- Anitha Mohanraj Barney (ORCID: https://orcid.org/0000-0002-6844-9918)
- Sumita Danda (ORCID: https://orcid.org/0000-0001-8973-370X)
- A. Rekha
- A.V Muhammed Sanoop
- Bhairavi Srinageshwari
- Gautham Arunachalam
Institutions
- Government Medical College (IN)
- Central Michigan University (US)
- Christian Medical College, Vellore (IN)
- Field Neurosciences Institute (US)
- Christian Medical College (IN)
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Neurology India
- Published
- 2024-11-01
- DOI
- https://doi.org/10.4103/ni.ni_744_22
- Citations
- 4
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 1.48