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MBCL-46. COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA
Constitutional mismatch repair deficiency (CMMRD) is a rare inherited cancer predisposition syndrome caused by bi-allelic mutations in one of four mismatch repair genes.(1) Individuals with CMMRD are at increased risk for childhood-onset brain tumors, hematologic malignancies, gastrointestinal tumor...
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| Publicado no: | Neuro Oncol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6012679/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noy059.442 |
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