Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00381-023-06061-5.pdf
Reference23 articles.
1. Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2–17
2. Li Y, O’Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25:9–18
3. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541–555
4. Pasmant E, Vidaud M, Vidaud D, Wolkenstein P (2012) Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49:483–489
5. Trovo-Marqui AB, Tajara EH (2006) Neurofibromin: a general outlook. Clin Genet 70:1–13
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