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Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants.

Marija GjorgjievskaGjorgji BozhinovskiElena Sukarova-AngelovskaMirjana KocovaLejla Muaremoska KanzoskaDijana Plaseska-Karanfilska
Published in: Balkan medical journal (2023)
genetic testing for a prompt and precise diagnosis, particularly in younger patients.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • chronic kidney disease
  • newly diagnosed
  • prognostic factors
  • signaling pathway
  • tertiary care
  • patient reported
  • genome wide