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Figure Caption
Fig. 1 Pictures of individuals with KICS2 variants and the positions of the variants within the gene (A–E) Affected individuals show a short, deep philtrum, a short, broad nose, a broad nasal bridge, and a prominent forehead: (A) individual A:II-1 at age 15 years, (B) individual B:II-2 at age 16 years, (C) individual B:II-4 at age 10 years, (D) individual D:II-3 at age 7 years, and (E) individual H:II-1 at age 12 years. (F) KICS2 gene structure with the identified variants; identified missense variants are localized in highly conserved regions.
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Full text @ Am. J. Hum. Genet.