PMC7573717_01
Pedigree and Images of Proband with PURA Variant. (A) Pedigree highlighting that the proband (III.5), is affected. (B-E) Representative images of the proband at age 17 years of age showing the patients face, ears, stature, and hand, respectively.
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PMC7573717_01_10.1177_2329048X20955003-fig1.jpg
fig1-2329048X20955003
There is no history of consanguinity (Figure 1).