Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
Crossref DOI link: https://doi.org/10.1186/s12881-017-0391-x
Published Online: 2017-04-05
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Ramchander, N. C.
Ryan, N. A. J. http://orcid.org/0000-0003-3117-3257
Crosbie, E. J.
Evans, D. G.
Funding for this research was provided by:
Medical Research Council (MR/M018431/1)
National Institute for Health Research (NIHR-CS-012-009, NF-SI-0513-10076)
