患有小脑症的新生儿的辐射敏感性:尼姆根断裂综合征的病例报告

Gunes Cakmak Genc1, Busra Yilmaz1, Sevim Karakas Celik1

  • 1Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.

PubMed
概括

尼米根断裂综合征 (NBS) 是一种DNA修复障碍,在新生儿中鉴定出由于染色体不稳定性增加而导致的小头症. 早期诊断和对放射性敏感性的认识对于患者的生存至关重要.

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