PMC3701920_01
Pedigree of the patient
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The pedigree of the patient is shown in Figure 1.
Plain bone radiography of the left wrist
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Plain bone radiography of the left wrist and hand demonstrated open metacarpal and phalangeal epiphyses, and the bone age was estimated as 15 years (Figure 2).
A) Analysis of genetic mutation: Homozygous R375HG-A mutation (CYP19A1gene); B) Analysis of genetic mutation:Heterozygous R375H G- A mutation (CYP19A1gene)
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A homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene (Figure 3a). The genetic analysis of the family members revealed a homozygous R375H G-A mutation in the younger brother and heterozygous R375H G-A mutation in the mother, father, and older brother (Figure 3b).