Fig. 3.

a A heterozygous c.1385T > A transition in exon 7 of KRT6A was identified by WES from mother's blood. The red arrow indicates the variant c.1385T > A. b Standard curve of the mutant allele quantity, derived from serial dilutions of DNA from a heterozygous patient and a normal control, in which 50%, 25%, 12.5%, 6.25%, 3.13%, and 1.56% of the DNA has a mutation. SNaPshot sequencing revealed mosaicism at level of 2.5% and 4.7% in the mother’s DNA from blood and hair bulbs