Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini...

Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin & hellip; Tags: Research Source Type: research