Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additional...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Taeubner, Julia, Wimmer, Katharina, Muleris, Martine, Lascols, Olivier, Colas, Chrystelle, Fauth, Christine, Brozou, Triantafyllia, Felsberg, Joerg, Riemer, Jasmin, Gombert, Michael, Ginzel, Sebastian, Hoell, Jessica I., Borkhardt, Arndt, Kuhlen, Michaela
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839041/
https://ncbi.nlm.nih.gov/pubmed/29302048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0071-5
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