case_images: PMC6384928_01
case_images: 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
case_images: 41439_2019_41_Fig1_HTML.jpg
case_images: PMC6384928_02_41439_2019_41_Fig1_HTML.jpg
case_images: Fig1
case_images: Sanger sequencing of DNA from her mother showed homozygosity for the c.269delG, p.(Gly90Alafs*4) variant (Fig. 1b).
case_images: PMC6384928_02
case_images: 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
case_images: 41439_2019_41_Fig1_HTML.jpg
case_images: PMC6384928_02_41439_2019_41_Fig1_HTML.jpg
case_images: Fig1
case_images: Sanger sequencing of DNA from her mother showed homozygosity for the c.269delG, p.(Gly90Alafs*4) variant (Fig. 1b).