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Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis
Alport syndrome (AS) is a rare hereditary disease that presents with chronic kidney disease and sensorineural hearing loss, and is diagnosed by its clinical features, pathological features on renal tissue, and mode of inheritance. We report a woman in her 20 s who exhibited persistent haematuria wit...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | CEN Case Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Singapore
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6990314/ https://ncbi.nlm.nih.gov/pubmed/31677115 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-019-00429-w |
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