case_images: PMC4920738_01
case_images: The mutated sequence of NCCT polymerase chain reaction (PCR) fragment. The red circle indicates a homozygous c.2687 G > A mutation of exon 23 in SLC12A3 which led to p.Arg896Gln
case_images: 40064_2016_2579_Fig1_HTML.jpg
case_images: PMC4920738_01_40064_2016_2579_Fig1_HTML.jpg
case_images: Fig1
case_images: This patient carried out c. 2687 G > A homozygous mutation of exon 23 in the SLC12A3 gene which led to p.Arg896Gln which was already known as pathogenic mutation in the previous report (Kurschat et al.) (Fig. 1).