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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: J Pediatr. 2018 Nov 7;206:286–292.e1. doi: 10.1016/j.jpeds.2018.10.018

Figure 2: TBX4 mutations.

Figure 2:

A) Whole exome sequencing performed on Infant A identified a de novo four base pair deletion in exon 5 (c.524_527del) located within the T-box, the critical DNA binding domain of the resultant protein. B) Microarray analysis performed on Infant B identified a 2.2Mb deletion in the long arm of chromosome 17 (17q23.1-17q23.2; 58113570_60325222) encompassing the TBX2 and TBX4 genes.