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Table 1 CREBBP deletions reported in previous studies

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

LOVD (Mogensen et al. [34], Bentivegna et al. [35])

7

Ex2-3del

Cross et al. [27]

8

Ex3-31del

Pérez-Grijalba et al. [26]

9

Ex4-16del

HGMD (Bentivegna et al. [35], Rusconi et al. [28])

10

Ex6-13del

Cross et al. [27]

11

Ex6-31del

HGMD (Rusconi et al. [28], Choi et al. [32])

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

HGMD (López et al. [36], Choi et al. [32])

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

Lai et al. [38], Rusconi et al. [28]

28

Ex31del

HGMD (Bentivegna et al. [35], Rusconi et al. [28])