Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene
Figure 2
Results of CYP21A2 sequencing of DNA of the patient. (a) panel shows part of the exon 3 sequence with the R132C mutation indicated. (b) panel shows part of the exon 8 sequence with the R339H mutation indicated. Both mutations are present in a heterozygous state.