PMC10022664_01
(A) sequence analysis of the genomic DNA of our rubinstein-taybi patient. Direct analysis of the CREBBP sequence reveals the C.5837dupC(p.P1974Thrfs*19) mutation. The CREBBP sequences of the patient's parents are also displayed (B1, B2).
fped-11-1059658-g002.jpg
PMC10022664_01_fped-11-1059658-g002.jpg
F2
Neither parent had any abnormalities at this site (Figure 2).
PMC10022664_02