Case Report
Copyright ©The Author(s) 2020.
World J Clin Cases. Jan 26, 2020; 8(2): 331-336
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.331
Figure 1
Figure 1 Genetic analysis of the OFD1 gene. A: The mother; B: Patient 1; C: Patient 2. The results showed that the twins both carried a hemizygous mutation while the mother heterozygously carried the same mutation in exon 19 c.2524G>A (p.G842R).