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

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

Abstract 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, co...

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Bibliographic Details
Main Authors: N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans
Format: Article
Language:English
Published: BMC 2017-04-01
Series:BMC Medical Genetics
Subjects:
Constitutional mismatch repair deficiency
CMMRD
Mismatch repair
MMR
PMS2
Lynch syndrome
Online Access:http://link.springer.com/article/10.1186/s12881-017-0391-x

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http://link.springer.com/article/10.1186/s12881-017-0391-x

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