性发育的差异:来自单一三级儿科内分泌学中心的420名患者的研究

Silvia Ventresca1,2, Laura Chioma3, Rosario Ruta4

  • 1Department of Pediatrics, University Hospital Arcispedale Sant'Anna, University of Ferrara, 44124 Ferrara, Italy.

PubMed
概括

这项关于性别发育差异 (DSD) 的研究发现,下一代测序 (NGS) 显著改善了儿科患者的遗传诊断率. 多学科的方法是管理这些复杂的先天性疾病的关键.

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