Rubinstein-Taybi综合征
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文献评审日期:2022-01-01
1. RUBINSTEIN JH, TAYBI H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608. doi:10.1001/archpedi.1963.02080040590010
2. Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet. 1991;38(4):636-639. doi:10.1002/ajmg.1320380430
3. Breuning MH, Dauwerse HG, Fugazza G, et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet. 1993;52(2):249-254.
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