Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation

Abstract Background Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome sequencing in the early diagnosis of immunodeficiency in an infant. Cas...

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Bibliographic Details
Main Authors: Xue Gong, Yunru He, Guoyan Lu, Yulin Zhang, Yu Qiu, Lina Qiao, Yifei Li
Format: Article
Language:English
Published: BMC 2022-07-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-022-01303-y