Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
| Autor: | Fazhan Zhong, Mei Tan, Yan Gao |
|---|---|
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | European Journal of Medical Genetics. 66:104753 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2023.104753 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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