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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| 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 |