constitutional mismatch repair deficiency (CMMRD)

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
Lili Li, Nancy Hamel, Kristi Baker, Michael J McGuffin, Martin Couillard, Adrian Gologan, Victoria A Marcus, Bernard Chodirker, Albert Chudley, Camelia Stefanovici, Anne Durandy, Robert A Hegele, Bing-Jian Feng, David E Goldgar, Jun Zhu, Marina De Rosa, Stephen B Gruber, Katharina Wimmer, Barbara Young, George Chong, Marc D Tischkowitz, William D Foulkes

Journal of Medical Genetics May 2015, 52 (5) 348-352; DOI: 10.1136/jmedgenet-2014-102934

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constitutional mismatch repair deficiency (CMMRD)