ArticleFrontiers in pediatrics2022
Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical features and surgical treatments of scoliosis in neurofibromatosis type 1: a systemic review and meta-analysis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2024Pooled it
- Real-Time navigation calibration for pedicle screw placement in neurofibromatosis Type 1-associated scoliosis: An anatomical variability-stratified accuracy study.International orthopaedics · 2026Article
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- Surgical treatment for neurofibromatosis type 1-related dystrophic scoliosis in children aged 8 to 11: traditional growing rod or posterior spinal fusion?BMC surgery · 2026Article
- Tips and Pitfalls of Surgical Techniques for Scoliotic Deformities in Neurofibromatosis Type 1.Journal of clinical medicine · 2025Review
- Burden of disease and unmet needs associated with scoliosis in neurofibromatosis type 1: a systematic literature review.JBMR plus · 2025Article
- The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing.Frontiers in neurology · 2025Article
- Surgical Treatment Outcomes of Anterior-Only Correction and Reconstruction for Severe Cervical Kyphotic Deformity with Neurofibromatosis-1: A Retrospective Study with a 5-Year Follow-Up.Orthopaedic surgery · 2024Article
- Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant ofOrthopedic research and reviews · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: To analyze the genotypic characteristics of patients with neurofibromatosis type 1 (NF1) associated dystrophic scoliosis and to summarize the outcomes of the surgical treatment of these patients. Methods: Exome sequencing (ES) combined with multiplex ligation-dependent probe amplification (MLPA) was used for genotypic identification. All patients underwent surgical treatments for spinal deformities, and the outcomes of the surgery was summarized by analyzing the clinical and imaging parameters before and after the surgery. Results: Fourteen patients (six males and eight females) were clinically diagnosed as NF1 associated dystrophic scoliosis with common symptoms including café-au-lait spots, paravertebral tumors, and dystrophic scoliosis. Conclusions: In patients with dystrophic scoliosis who met the clinical diagnostic criteria for NF1, the mutation detection rate of ES combined with MLPA was 85.7%. There was no mutation hotspot in
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