Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review
NTHL1-associated tumour syndrome, formerly known as NTHL1-associated polyposis, is a rare autosomal recessive tumour predisposition in which biallelic carriers of pathogenic NTHL1 variants develop multiple, predominantly adenomatous, polyps and have an increased risk of colorectal cancer and extrac...
Gorde:
| Egile Nagusiak: | , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
SMW supporting association (Trägerverein Swiss Medical Weekly SMW)
2025-12-01
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| Saila: | Swiss Medical Weekly |
| Sarrera elektronikoa: | https://smw.ch/index.php/smw/article/view/4554 |
| Etiketak: |
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