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Clinical Phenotype
(A) EB at the ankle (arrow) in case R06-113A.
(B) Upper extremity joint laxity and long fingers in R06-113A.
(C and D) Radiographs showing scoliosis (arrows) in R06-113A and R93-188A, respectively.
(E and F) Wedge vertebrae (arrows) in R06-113A and R93-188A, respectively.
(G and H) Fractures, bent bones, and osteopenia (arrows) in R06-113A.
