Article
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
The Journal of molecular diagnostics : JMD - 1 Feb 2024
Pacot Laurence, Ye Manuela, Nectoux Juliette, Laurendeau Ingrid, Briand-Suleau Audrey, Coustier Audrey, Maillard Théodora, Barbance Cécile, Orhant Lucie, Vaucouleur Nicolas, Blanché Hélène, Parfait Béatrice, Wolkenstein Pierre, Vidaud Michel, Vidaud Dominique, Pasmant Eric
Abstract excerpt
Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients. This genotype-phenotype...
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