Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Dec 6, 2022; 10(34): 12734-12741
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12734
Figure 2
Figure 2 Sanger sequencing showed a heterozygous nonsense mutation (c. 1153C>T:p.R385* in exon 15) in the patient 2. Her parents were normal. Red arrows point to the mutant bases. TCF4: Transcription factor 4.