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

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

Abstract Background 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 clinical findings. In recent years, advancements in next-generation sequenci...

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Bibliographic Details
Main 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, Yanling Yang
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Genetic disease
Dual molecular diagnoses
Whole-exome sequencing
Methylmalonic acid
Online Access:https://doi.org/10.1186/s13023-024-03148-3

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