Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3
Abstract Background Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or NUP133 mutations. Case presentati...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2023-02-01
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| シリーズ: | BMC Nephrology |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s12882-022-03000-5 |
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