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. 2020 Mar 19;12(1):109–112. doi: 10.4274/jcrpe.galenos.2019.2018.0198

Figure 1.

Figure 1

A) (Case 1), B) (Case 2): A novel homozygous nonsense pathogenic variant p.R115X (c.343 C>T) was detected in the CYP19A1 gene sequence analysis. C) (Mother), D) (Father): The parents were heterozygous for the same mutation