Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features. [PDF]
Ann Med Surg (Lond)Liu Y +6 more
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Development of an adult neurofibromatosis clinic in the comprehensive cancer center setting and descriptive analysis of the first 100 patients with neurofibromatosis type 1. [PDF]
Orphanet J Rare DisLipinski LJ +9 more
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Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1. [PDF]
Turk J OphthalmolAhmadova N +4 more
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Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. [PDF]
Neurol GenetSchatz KS +7 more
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Spontaneous arterial rupture complicating neurofibromatosis type 1: a case report of massive lumbogluteal hematoma and literature review. [PDF]
Front Med (Lausanne)Zhang J, Pang X, Meng Y, Sun Q.
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An Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report. [PDF]
CureusAlsakran WA +4 more
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A diagnostic approach to neurocutaneous syndromes. [PDF]
Arq NeuropsiquiatrGama SM +6 more
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Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report. [PDF]
Case Rep OphthalmolMancini M +5 more
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Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1. [PDF]
Pediatr DermatolGarcía-Díaz JD +3 more
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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study. [PDF]
BiomedicinesVeres K +7 more
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