PMC6482258_01
PMC6482258_02
Mutations of "TBX19 gene" detected in family members.
fendo-10-00251-g0001.jpg
PMC6482258_02_fendo-10-00251-g0001.jpg
F1
Molecular analysis revealed that c.205C>T was inherited from mother and fragment deletion (from g.168,247,374 to g.168,278,264) was inherited from father. c.205C>T was confirmed by Sanger sequencing (Figure 1).