Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome

Key Clinical Message 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 heterozygou...

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Autors principals:	Chao Ling, Wei Yang, Hailang Sun, Ming Ge, Yuanqi Ji, Shirui Han, Di Zhang, Xue Zhang
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2018-08-01
Col·lecció:	Clinical Case Reports
Matèries:	Bi‐allelic mutations CMMR‐D syndrome MSH6
Accés en línia:	https://doi.org/10.1002/ccr3.1564
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