TABLE 1.
Clinical manifestations of probands 1–3.
| Proband | Age | Gender | Mutation | Origin | Involved area | ||||||
|
|
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| Forehead | Forelock | Front chest | Abdomen | Back | Upper limbs | Lower limbs | |||||
| 1 | 2 years and 8 months | Male | c.2469_2484del(p.Tyr823*) | Paternal | + | + | + | + | – | + | + |
| 2 | 9 months | Female | c.1994C > T(p.Pro665Leu) | De Novo | + | – | – | + | + | + | + |
| 3 | 5 months | Male | c.1982_1983insCAT (p.662_663insIle) |
Paternal | + | + | + | – | – | + | + |