Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

PURPOSE: Biallelic germline mismatch repair (MMR) gene pathogenic variants (PVs) cause constitutional MMR deficiency (CMMRD), a highly penetrant childhood cancer syndrome phenotypically overlapping with neurofibromatosis type 1 (NF1). CMMRD testing in suspected NF1 children without NF1/SPRED1 PVs en...

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Udgivet i:Genet Med
Main Authors: Perez-Valencia, Juan A., Gallon, Richard, Chen, Yunjia, Koch, Jakob, Keller, Markus, Oberhuber, Klaus, Gomes, Alicia, Zschocke, Johannes, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro, Messiaen, Ludwine, Wimmer, Katharina
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7708300/
https://ncbi.nlm.nih.gov/pubmed/32773772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0925-z
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