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Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene M...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099036/ https://www.ncbi.nlm.nih.gov/pubmed/30147880 http://dx.doi.org/10.1002/ccr3.1564 |