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Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review
BACKGROUND: Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507654/ https://www.ncbi.nlm.nih.gov/pubmed/32957916 http://dx.doi.org/10.1186/s12882-020-02038-7 |