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Article

Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis

18 Aug 2022

Abstract excerpt

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...

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PMID: 36061378
DOI: 10.3389/fped.2022.918136

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