Benign and malignant tumors in Rubinstein-Taybi syndrome.
American Journal Of Medical Genetics. Part A
Boot, Max V MV; van Belzen, Martine J MJ; Overbeek, Lucy I LI; Hijmering, Nathalie N; Mendeville, Matias M; Waisfisz, Quinten Q; Wesseling, Pieter P; Hennekam, Raoul C RC; de Jong, Daphne D
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
International Journal Of Molecular Sciences
Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N
Publication Date: 2015-03-11
Variant appearance in text: CREBBP: 6127C>T; Gln2043X