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February 20, 2024Open Access

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

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AJAurora JurcaCPCodruța Diana PetcheșiCJClaudia Jurcă

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Jurca et al. (2024) studied this question.

synapsesocial.com/papers/68e786ffb6db6435876f9bc7https://doi.org/10.20944/preprints202402.1140.v1
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Also Consider

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

  1. 1The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants2024 · 1 citations
  2. 2Neurodevelopmental Comorbidities and Novel Population-based Mutations in Ethnic Patients with Neurofibromatosis Type 12025
  3. 3Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype–Phenotype Correlations in a Romanian Cohort2026
  4. 4Type 1 Neurofibromatosis Sans Neurofibroma: A Case Report Emphasizing the Role of Ocular Examination2024
  5. 5Neuropsychological discovery in neurofibromatosis 1 family associated with a novel pathogenic intronic variant in NF12024