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Table 1 Main clinical signs of the thirty-one Italian RSTS patients.

From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

patient age sex microcephaly facial features PMR/MR large/bifid abducted thumb hallux large/bifid hallux valgus/varus poor growth malformations CREBBP mutation
46* 3 F - + + moderate +/- + -/- + + missense
42 18 F + + + +/+ + -/- + - deletion
32 4 F + + + +/- + +/- + - nonsense
34 2 M + + + moderate +/- - -/- + - nonsense
15 11 M + + + severe +/- + -/- + + missense
2 10 F + + + moderate +/- + -/- + - insertion
11 14 M + + + +/+ + -/- + + nonsense
17 14 F + + + +/- + -/- + + deletion
20 10 F + + + severe +/- + -/+ + - splice-site mutation
21 7 M + + + +/+ + +/+ - + deletion
22 30 F + + + +/+ + -/- + - deletion
23 5 F - + + moderate +/+ + -/- - + missense
24 7 F - + + +/- + -/- + - nonsense
35 39 M - + + +/- + -/- + - nonsense
40 26 F + nd + severe +/- + nd + - mosaic del 5'
66 6 M - + + severe +/- + - - + mosaic del 5'
41 25 F + + + +/+ + -/- + - del mat
38 5 M - + + severe -/- + -/- - - mosaic del 3'
30 26 F + + + +/+ + -/- + - del mat
36 11 F - + + borderline +/- - -/- - - neg
39 13 M + + + -/- + -/- + + neg
43 11 M + + + servere nd nd nd - nd neg
44 21 M nd + + +/+ + -/- - - neg
1 9 M + + + moderate +/- - -/- - - neg
12 17 M + +/- + moderate +/- + -/- + - neg
14 6 F - + + moderate +/+ + -/- - + neg
16 8 M + + + moderate +/+ + -/+ + + neg
25 4 M - + + mild +/- + -/- - + neg
45 28 F nd + + moderate nd nd nd + nd neg
28 42 F + + + +/+ + -/- - - neg
29 37 M + + + +/- + -/- - - neg
  1. *development of multiple epiteliomas