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 http://orcid.org/0000-0002-0732-7538
Wimmer, Katharina
Funding for this research was provided by:
Austrian Science Fund (KLI 734-B26)
This article is maintained by: Elsevier
Article Title: Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-0925-z
Content Type: article
Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics