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A) Pedigrees of the individuals described. B) Example of Sanger sequencing results for the IFITM5 mutation, here in patient 10 and her parents. C) Two affected members of the same family: patients 8 and 9. The father is aged 52, and the son 18 at the time of the photograph. Although the son was treated at an earlier age with bisphophonates, this does not explain the important difference in phenotype.
