3M综合征患者具有新型突变:一个病例报告
Ming-Ran Luo1, Si-Ming Dai1, Yin Li1
1Department of Orthopedics, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.
World journal of clinical cases
|April 5, 2024
概括
3M综合症是一种罕见的遗传疾病,导致生长迟缓,可以呈现异常. 这项研究确定了一种新的OBSL1基因变异,扩大了对3M综合征的分子理解,并强调了对遗传测试的需要.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 分子生物学分子生物学
- 儿科 儿科 儿科
背景情况:
- 3M综合征是一种罕见的自体逆性遗传疾病,导致严重的生长迟缓.
- 关键特征包括身高矮,面部形和长骨,在CUL7,OBSL1和CCDC8基因中发生突变.
- 临床和分子特征对于诊断至关重要.
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