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. 2018 Feb 26;10(1):83–86. doi: 10.4274/jcrpe.4841

Figure 2. Electropherogram after genetic analysis of the index patient. Genetic investigation revealed the girl to be a compound heterozygote with two different mutations in the CYP24A1 gene: the previously reported c.428_430delAAG (p.E143del) mutation, and the novel c.247C>G (p.H83D) mutation.

Figure 2