heredity

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Melyssa Aronson, Chrystelle Colas, Andrew Shuen, Heather Hampel, William D Foulkes, Hagit Baris Feldman, Yael Goldberg, Martine Muleris, Kami Wolfe Schneider, Rose B McGee, Kory Jasperson, Arun Rangaswami, Laurence Brugieres, Uri Tabori

Journal of Medical Genetics Apr 2022, 59 (4) 318-327; DOI: 10.1136/jmedgenet-2020-107627
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
Kenan Zhang, Jianhui Qiu, Wuping Yang, Kaifang Ma, Lei Li, Haibiao Xie, Yawei Xu, Yanqing Gong, Jingcheng Zhou, Lin Cai, Kan Gong

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108216; DOI: 10.1136/jmedgenet-2021-108216

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heredity