Article
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Orphanet journal of rare diseases - 28 Mar 2022
Liu Lian, Sun Liying, Chen Yujun, Wang Muchuan, Yu Chenxi, Huang Yingzhao, Zhao Sen, Du Huakang, Chen Shaoke, Fan Xin, Tian Wen, Wu Zhihong, Qiu Guixing, Zhang Terry Jianguo, Wu Nan
Abstract excerpt
BACKGROUND: Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogenic disorders. More recently, complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal deformities and may...
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