CREBBP and Rubinstein-Taybi syndrome: MLPA did not reveal any large deletions spanning CREBBP. WES showed a 2-bp deletion leading to a frame-shift in the CREBBP locus (NM_004380:c.4404_4405del:p.Gly1469AlafsTer9), which had been reported in another RSTS patient (Murata, 2001).