Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

BACKGROUND: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constituti...

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Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Ramchander, N. C., Ryan, N. A. J., Crosbie, E. J., Evans, D. G.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5381022/
https://ncbi.nlm.nih.gov/pubmed/28381238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0391-x
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