Table 1.
Patient | Sex | Age (Years) | Cranial Sign | Clavicular Sign | Delayed Eruption of Permanent Teeth (Number) | Supernumerary Teeth | Mutation |
---|---|---|---|---|---|---|---|
#1 | Male | 25 | Yes | Yes | Yes (16) | Yes | c.644delG |
#2 | Female | 26 | Yes | Yes | Yes (19) | No | c.674G > T |
#3 | Female | 26 | Yes | Yes | Yes (7) | Yes | c.559C > T |
#4 | Male | 29 | Yes | Yes | Yes (18) | Yes | c.569G > A |
#5 | Male | 20 | Yes | Yes | Yes (14) | Yes | c. 514delT a |
#6 | Female | 23 | Yes | Yes | Yes (14) | No | — |
#7 | Male | 16 | Yes | Yes | Yes (25) | Yes | c.673C > T |
#8 | Female | 18 | Yes | Yes | Yes (8) | Yes | c.199C > T |
#9 | Female | 46 | Yes | Yes | Yes (7) | Yes | c.557G > C |
#10 | Male | 20 | Yes | Yes | Yes (6) | Yes | c.338T > G |
a The point mutation selected in RNA-seq.