SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review

Figure 1 The family pedigree and mutations detected in SATB2. A: The pedigree of the family with SATB2-associated syndrome (SAS). The arrow indicates the proband; the parents have no signs of SATB2-associated syndrome; B: The mutations detected in the family. The mutation is de novo in the proband, whereas the parents are wild-type.