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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Bibliografski detalji

Glavni autori:	Chao Ling, Wei Yang, Hailang Sun, Ming Ge, Yuanqi Ji, Shirui Han, Di Zhang, Xue Zhang
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2018-08-01
Serija:	Clinical Case Reports
Teme:	Bi‐allelic mutations CMMR‐D syndrome MSH6
Online pristup:	https://doi.org/10.1002/ccr3.1564
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