case_images: PMC5431607_01
case_images: Sanger sequence of control and patient DNA: upper panel shows a wild-type (normal) sequence and lower panel shows a heterozygous c.1364 G > A mutation (arrow).
case_images: 10.1177_2050313X17706044-fig1.jpg
case_images: PMC5431607_01_10.1177_2050313X17706044-fig1.jpg
case_images: fig1-2050313X17706044
case_images: The patient's genetic mutation was confirmed at our laboratory with bidirectional Sanger sequencing (Figure 1).