A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure. The boy has suffered from vision decline ever since infancy. Gene...
| Main Authors: | , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Rare Diseases
2022-07-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.015 |