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. 2011 Sep 13;6(9):e24925. doi: 10.1371/journal.pone.0024925

Figure 2. JBS patients.

Figure 2

(A) Patient #1, whose facial appearance is nearly normal. Note the frontal upsweep of the hair and subtle hypoplasia of the nasal wings (minor signs of JBS). (B) Patient #2, a typical facial appearance of JBS, including the aplasia of nasal wings, midface hypoplasia, and a characteristic frontal hair pattern. (C) Patient #3, with a mild hypoplasia of nasal wings. (D) A previously described case of severe JBS, with typical facial features, in which both alleles of UBR1 were, most likely, null alleles (see Results and ref. [6]).