A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
Abstract Background Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristi...
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| Автори: | , , , , , , |
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| Формат: | Книга |
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BMC,
2024-06-01T00:00:00Z.
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A1234.567 |
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| Примірник 1 | Доступно |