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Constitutional mismatch repair deficiency syndrome: Do we know it?
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots...
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| Publicado no: | Indian J Hum Genet |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4228574/ https://ncbi.nlm.nih.gov/pubmed/25400351 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.142902 |
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