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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Chao Ling, Wei Yang, Hailang Sun, Ming Ge, Yuanqi Ji, Shirui Han, Di Zhang, Xue Zhang
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Wiley 2018-08-01
Sarja:	Clinical Case Reports
Aiheet:	Bi‐allelic mutations CMMR‐D syndrome MSH6
Linkit:	https://doi.org/10.1002/ccr3.1564
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