PMC6872539_01
Pedigree and de novo IGF2 variant identified in the family. The proband (II-1) was the only patient in the family and carried a de novo IGF2 variant. The parents of the patient were wild type.
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The proband is a 4 year old male who is the only child of a Chinese family ( Figure 1 ). Subsequently, whole-exome sequencing (WES) of the patient-parent trio was conducted ( Figure 1 II-1, I-1, I-2 ).