Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic meth...
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
About this item
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Author / Creator
Liu, Yupeng , Ma, Xue , Chen, Zhehui , He, Ruxuan , Zhang, Yao , Dong, Hui , Ma, Yanyan , Wu, Tongfei , Wang, Qiao , Ding, Yuan , Li, Xiyuan , Li, Dongxiao , Song, Jinqing , Li, Mengqiu , Jin, Ying , Qin, Jiong and Yang, Yanling
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 sequencing, including whole-exome sequencing, have led to the incidental ident...
Alternative Titles
Full title
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
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TN_cdi_doaj_primary_oai_doaj_org_article_2660592616f1486c9a1b8a5ce6020c5b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2660592616f1486c9a1b8a5ce6020c5b
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03148-3
