Fig. 1: The sanger sequencing results.

Electropherogram showed the heterozygous germline point mutation [c.654+1āGā>āT] in the PTCH1 gene for patient A and the homozygous wild-type allele for his father B and his mother C.

Electropherogram showed the heterozygous germline point mutation [c.654+1āGā>āT] in the PTCH1 gene for patient A and the homozygous wild-type allele for his father B and his mother C.