Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
涉及 PITX2 的复杂平衡染色体内重排被确定为 Axenfeld-Rieger 综合征的病因
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63542
Farris Joseph, Khanna Cheryl, Smadbeck James B, Johnson Sarah H, Bothun Erick, Kaplan Tyler, Hoffman Francis, Polonis Katarzyna, Oliver Gavin, Reis Linda M, Semina Elena V, Rust Laura, Hoppman Nicole L, Vasmatzis George, Marcou Cherisse A, Schimmenti Lisa A, Klee Eric W
