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...

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Detalles Bibliográficos
Autores principales: Ling, Chao, Yang, Wei, Sun, Hailang, Ge, Ming, Ji, Yuanqi, Han, Shirui, Zhang, Di, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
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

Internet

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

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