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

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. CASE PRESEN...

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Detalles Bibliográficos
Autores principales: Gong, Xue, He, Yunru, Lu, Guoyan, Zhang, Yulin, Qiu, Yu, Qiao, Lina, Li, Yifei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9264746/
https://www.ncbi.nlm.nih.gov/pubmed/35804376
http://dx.doi.org/10.1186/s12920-022-01303-y