Figure 1: Mutations in IFT81 cause SRP syndrome. | Scientific Reports

Figure 1: Mutations in IFT81 cause SRP syndrome.

From: Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Figure 1

Radiographic findings in R98-443 and R13-147A. (A,F) show dolicocephaly, prominent occiput, and midface hypoplasia. (B,G) show long narrow thoraxes, handlebar clavicles in R98-443 and very short horizontal ribs in R13-147. (C) Upper extremity of R98-443 demonstrating shortened humerus and radius, and short, abnormally shaped ulna. (H) Lower extremity of R13-174 showing marked deficiency of the femur, tibia and fibula. (D,I) show brachydactyly and polydactyly and poor mineralization (arrow) in SRP case R13-174. (E,J) Chromatograms illustrating compound heterozygosity for mutations found in each case.

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