Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations
对70名重度青少年特发性脊柱侧弯先证者进行全面的基因筛查,揭示了新的致病变异和综合征关联。
期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2025.1646415
Horbacz, Monika; Koczkowska, Magdalena; Rocławski, Marek; Ceynowa, Marcin; Madanecki, Piotr; Sarkisyan, Daniil; Mieczkowski, Jakub; Śledzińska, Karolina; Dumanski, Jan P; Pankowski, Rafał; Piotrowski, Arkadiusz