From: A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
No | CREBBP deletion | Databases (Decipher, public HGMD, LOVD) and references |
---|---|---|
1 | Ex1del | HGMD (Breuning et al.[33]) |
2 | Ex2del | LOVD (Breuning et al. [33]) |
3 | Ex1-2del | LOVD (Breuning et al. [33]) |
4 | Ex1-3del | Choi et al. [32] |
5 | Ex1-19del | Roelfsema et al. [29] |
6 | Ex1-31del | |
7 | Ex2-3del | Cross et al. [27] |
8 | Ex3-31del | Pérez-Grijalba et al. [26] |
9 | Ex4-16del | |
10 | Ex6-13del | Cross et al. [27] |
11 | Ex6-31del | |
12 | Ex7-8del | Cross et al. [27] |
13 | Ex9-14del | Cross et al. [27] |
14 | Ex12-31del | Rusconi et al. [28] |
15 | Ex17-28del | Cross et al. [27] |
16 | Ex17-31del | |
17 | Ex20-31del | Elalaoui SC, et al. [37] |
18 | Ex21del | Pérez-Grijalba et al. [26] |
19 | Ex22-23del | HGMD (Bentivegna et al. [35]) |
20 | Ex24-28del | Cross et al. [27] |
21 | Ex24-31del | Pérez-Grijalba et al. [26] |
22 | Ex26-30del | Pérez-Grijalba et al. [26] |
23 | Ex27-28del | Cross et al. [27] |
24 | Ex27-29del | Cross et al. [27] |
25 | Ex27-30del | This study |
26 | Ex29-30del | Pérez-Grijalba et al. [26] |
27 | Ex29-31del TRAP1 | |
28 | Ex31del |