PMC5823681_01
Family pedigrees case 1. The arrow point to the proband case who underwent whole-genome sequencing
MGG3-6-109-g001.jpg
PMC5823681_01_MGG3-6-109-g001.jpg
mgg3341-fig-0001
Proband is a 2-year-old girl who was born term to first cousin parent after an uneventful pregnancy (Figure 1). Patient had normal head circumference.
PMC5823681_02
PMC5823681_03