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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

by Li, Lili, Hamel, Nancy, Baker, Kristi, Mcguffin, Michael J, Couillard, Martin, Gologan, Adrian, Marcus, Victoria A, Chodirker, Bernard, Chudley, Albert, Stefanovici, Camelia, Durandy, Anne, Hegele, Robert A, Feng, Bing Jian, Goldgar, David E, ZHU, jun, DE ROSA, MARINA, Gruber, Stephen B, Wimmer, Katharina, Young, Barbara, Chong, George, Tischkowitz, Marc D, Foulkes, William D.
Published in Journal of Medical Genetics (2015)