Figure 1. . Children with CFC syndrome who have known pathogenic variants in BRAF or MAP2K1 or MAP2K2 A.

Figure 1.

Children with CFC syndrome who have known pathogenic variants in BRAF or MAP2K1 or MAP2K2

A. Three young children with BRAF pathogneic variants: p.Thr470del, in exon 11 (left); p.Ser467Ala, in exon 11 (middle); and p.Gln257Arg, in exon 6 (right). Ages are 2.5, 2, and 2 years, respectively.

B. Two boys, age 12 and eight years, with MAP2K2 pathogenic missense variants: p.Phe57Cys, in exon 2 (left) and p.Tyr134Cys, in exon 3 (right)

C. Two boys age six years, previously clinically diagnosed with Costello syndrome, at the 2005 Costello Syndrome Family Conference. Both have BRAF pathogenic variants: p.Gly534Arg, a missense substitution in exon 13 (left) and p.Leu485Phe, a missense substitution in exon 12 (right).

Courtesy of CFC International

From: Cardiofaciocutaneous Syndrome

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