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. 2022 Nov 10;9:1040747. doi: 10.3389/fmed.2022.1040747

TABLE 1.

Clinical manifestations of probands 1–3.

Proband Age Gender Mutation Origin Involved area

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 + + + + +