Table 1. Genetic and clinical characteristics of Marfan Group.
S | Age | Sex | MT | PD | AD Z-score | PC | R | LF |
---|---|---|---|---|---|---|---|---|
D.P. | 7 | M | Splice | cb EGF-like#36 | 2.26 | X | X | X |
C.M. | 13 | M | FS | cb EGF-like#13 | 3.29 | X | ||
C.C. | 7 | M | STOP | cb EGF-like #04 | 3.3 | X | X | X |
C.G. | 14 | M | Missense | cb EGF-like #42 | 3.29 | X | X | X |
D.M. | 11 | F | Splice | cb EGF-like#36 | 2.49 | X | ||
T.M. | 5 | M | Missense | cb EGF-like #11 | 13.1 | X | ||
R.A. | 9 | F | Splice | cb EGF-like#36 | 5.40 | X | X | X |
D.A. | 9 | M | Splice | cb EGF-like#36 | 2.93 | X | X | |
B.M | 8 | F | Splice | cb EGF-like#36 | 2.30 | X | X | |
B.S. | 11 | M | Splice | cb EGF-like#36 | 2.90 | X | X | |
D.A. | 7 | F | Splice | cb EGF-like#36 | 4.41 | X | X | X |
G.A. | 12 | F | FS | cb EGF-like#33 | 3.57 | X | ||
M.L. | 8 | M | Missense | cb EGF-like #41 | 3.72 | X | X | X |
D.I. | 10 | F | Splice | cb EGF-like#36 | 2.74 | X | ||
D.A. | 9 | M | Missense Cys | cb EGF-like #14 | 3.57 | X | X | |
G.C. | 10 | F | FS | cb EGF-like#33 | 5.00 | X |
Notes.
- S
- Subjects
- MT
- Mutation type
- PD
- Protein domain
- AD
- Aortic dilatation
- PC
- Palatal constriction
- R
- Retrognatia
- LF
- Long face