Delineation of dual molecular diagnosis in patients with skeletal deformity.
Lian LiuLiying SunYujun ChenMuchuan WangChenxi YuYingzhao HuangSen ZhaoHuakang DuShaoke ChenXin FanWen TianZhihong Wunull nullGuixing QiuTerry Jianguo ZhangNan WuPublished in: Orphanet journal of rare diseases (2022)
This study demonstrated the complicated skeletal phenotypes associated with dual molecular diagnosis. Exome sequencing represents a powerful tool to detect such complex conditions.
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