case_images: PMC6090825_01
case_images: Three generation pedigree with a total of 10 affected family members. Colored shapes indicate affected individuals based on testing, history or both. Patient is indicated by arrow
case_images: 40734_2018_73_Fig1_HTML.jpg
case_images: PMC6090825_01_40734_2018_73_Fig1_HTML.jpg
case_images: Fig1
case_images: Our patient's maternal grandmother, two of three siblings and several maternal uncles and cousins were all similarly affected; a total of ten individuals were considered symptomatic in a three generation pedigree (Fig. 1).