PMC6384928_01
Pedigree and electropherogram of the family with a PTCH2 variant.. a Pedigree of the family with a PTCH2 variant. b Electropherogram of the PTCH2 c.269delG variant showing wild-type, heterozygous (patient 1) and homozygous (patient 2) individuals
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PMC6384928_02_41439_2019_41_Fig1_HTML.jpg
Fig1
Sanger sequencing of DNA from her mother showed homozygosity for the c.269delG, p.(Gly90Alafs*4) variant (Fig. 1b).
PMC6384928_02
Pedigree and electropherogram of the family with a PTCH2 variant.. a Pedigree of the family with a PTCH2 variant. b Electropherogram of the PTCH2 c.269delG variant showing wild-type, heterozygous (patient 1) and homozygous (patient 2) individuals
41439_2019_41_Fig1_HTML.jpg
PMC6384928_02_41439_2019_41_Fig1_HTML.jpg
Fig1
Sanger sequencing of DNA from her mother showed homozygosity for the c.269delG, p.(Gly90Alafs*4) variant (Fig. 1b).