[两个发育迟缓和智力残疾的孩子的遗传分析]
Fengyang Wang1, Na Qi, Yue Gao
1Henan Provincial Institute of Medical Genetics, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. 1130812837@qq.com.
发育迟缓和智力残疾的两名儿科患者被发现具有致病性染色体缺失. 一个删除涉及ZNF292,与智力障碍相关,另一个涉及SHANK3,与Phelan-McDermid综合征相关.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 发育迟缓和智力障碍 (ID) 是复杂的疾病,具有不同的遗传病因.
- 确定特定的遗传原因对于准确的诊断,预后和遗传咨询至关重要.
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