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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Nat Genet. 2014 Feb 16;46(4):380–384. doi: 10.1038/ng.2899

Figure 1.

Figure 1

Frontal facial photographs of patient 1 (a),2 (b), 4 (c), 5 (d), 6 (e) and 8 (f) at young age. Note the clinical similarities, including a prominent forehead, a thin upper lip and a broad nasal bridge. Consent for the publication of photographs was obtained for these patients (1, 2, 4, 5, 6 and 8).