Segmental spinal neurofibromatosis 1: a novel phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06139-z.pdf
Reference13 articles.
1. Riccardi VM (1981) Von Recklinghausen neurofibromatosis. N Engl J Med 305(27):1617–1627. https://doi.org/10.1056/NEJM198112313052704
2. Roth RR (1987) Segmental Neurofibromatosis. Arch Dermatol 123(7):917. https://doi.org/10.1001/archderm.1987.01660310085020
3. Ruggieri M, Huson SM (2001) The clinical and diagnostic implications mosaicism in the neurofibromatoses. Neurology 56(11):1433–1443. https://doi.org/10.1212/WNL.56.11.1433
4. Tinschert S, Naumann I, Stegmann E et al (2000) Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 8(6):455–459. https://doi.org/10.1038/sj.ejhg.5200493
5. Pulst SM, Riccardi VM, Fain P, Korenberg JR (1991) Familial spinal neurofibromatosis: Clinical and DNA linkage analysis. Neurology 41(12):1923–1923. https://doi.org/10.1212/WNL.41.12.1923
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