Coffin-Siris syndrome and cancer susceptibility
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains uncle...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2023-01-01
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| coleção: | Genetics in Medicine Open |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2949774423008270 |
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