Figure 1. Genetic pedigree of the family and the WGS analysis workflow. (A) Genetic pedigree of the family. II-2 is the proband; II-3 is the female patient; her child III-2 has abnormal biochemical index. The age of each family member is indicated as grey. The genotype of each family member is listed in the lower panel. (B) Workflow of the WGS analysis.