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July 10, 2024Open Journal of Clinical and Medical Case Reports

Neuropsychological discovery in neurofibromatosis 1 family associated with a novel pathogenic intronic variant in NF1

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Authors

VRV N ReinholdTNTaru NikkiläMKMinna Kankuri‐Tammilehto

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Cite This Study

Reinhold et al. (2024) studied this question.

synapsesocial.com/papers/68e60ceeb6db6435875a0993https://doi.org/10.52768/2379-1039/2261
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Neurodevelopmental Comorbidities and Novel Population-based Mutations in Ethnic Patients with Neurofibromatosis Type 12025
  2. 2A case of neurofibromatosis type 1 caused by a novel NF1 mutation2026
  3. 3The management of neurofibromatosis type 1 (NF1) in children and adolescents2024 · 12 citations
  4. 4The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants2024 · 1 citations
  5. 5Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]2024 · 10 citations