Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01304-0.pdf
Reference12 articles.
1. Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, et al. NF1 single and multi-exons copy number variations in neurofibromatosis type 1. J Hum Genet. 2015;60:221–4.
2. Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, et al. Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. Eur J Hum Genet. 2008;16:1459–66.
3. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Prim. 2017;3:17004.
4. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506–13.
5. Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. 2013;34:1510–8.
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