Fig. 3: Clinical and molecular presentations of Pat.65 and Pat.52 with COL17A1 c.4156+117 G > A variant. | npj Genomic Medicine

Fig. 3: Clinical and molecular presentations of Pat.65 and Pat.52 with COL17A1 c.4156+117 G > A variant.

From: Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Fig. 3

a The Pat.65 with JEB-intermediate presented with nearly completely alopecia, enamel dental problems, oral erosions, nail dystrophy, disseminated tense blisters on the erythema and skin healing with dyspigmentation. b Family pedigree and Sanger sequencing showed that the Pat.65 carried COL17A1 c.4156+117 G > A variant inherited from her father. c The Pat.52 with JEB-localized presented scattered blisters, skin healing with dyspigmentation and mild nail dystrophy. d Family pedigree and Sanger sequencing showed that the Pat.52 carried COL17A1 c.4156+117 G > A variant inherited from her father.

Back to article page