,

Matthias Begemann1, Johannes Alexander Tobias Boy2, Florian Kraft1

  • 1Center for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.

Genetics research
|December 24, 2025
PubMed
概括

本案例研究强调了先进的基因测试,用于诊断早产婴儿的扩散性先天性高胰岛素症 (CHI). 综合分析对于量身定制的治疗和家庭遗传咨询至关重要.