case_images: PMC6057309_01
case_images: Pedigree chart of the proband with affected family members.
case_images: CRIPE2018-2731039.001.jpg
case_images: PMC6057309_01_CRIPE2018-2731039.001.jpg
case_images: fig1
case_images: She also had a first cousin with similar features who died at the age of 21 years (Figure 1).