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September 10, 2025Journal of Medical Genetics

Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

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Authors

LPLaurence PacotMBMarinus J. BlokDVDominique Vidaud

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Overview

Analyses confirm genotype-phenotype correlations in NF1 patients with specific NF1 point variants, suggesting clinical relevance.

Key Points

  • Mild NF1 phenotype linked to p.Arg1809 variants, while severe forms associated with codons 844-848 and p.Arg1276.
  • New correlation identified for p.Arg1204 variants, showing no neurofibromas, in patients studied.
  • Large cohort study involving well-characterized NF1 patients aids in identifying crucial genotype-phenotype relationships.
  • Findings support improved management strategies for NF1 patients based on specific pathogenic variants.

Cite This Study

Pacot et al. (2025) studied this question.

synapsesocial.com/papers/68c1b19354b1d3bfb60e8b1fhttps://doi.org/10.1136/jmg-2025-110783
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