Fig. 7

Sequencing results for STK11 in the patient and her family members. Whole-exome sequencing (patient) and Sanger sequencing (patient’s father and brother) confirmed the pathogenic heterogeneous mutation of the STK11 gene mapped to Chr19:1207063–1,207,063, NM_000455.5:exon1:.150dup (p.Met51Aspfs*112)