Associated Papers
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A et al.
Bmc Medical Genetics, 2006
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