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Clinical Presentation and Pedigrees
(A) Clinical photos of affected individual 1:II-1. She had multiple joint contractures. Hands were fisted with thumbs adducted, and feet were maintained in an extended cavo-varus position.
(B) Segregation of the EXOSC9 sequence variants in the four pedigrees.
(C) Electropherograms of the EXOSC9 sequence variants identified in this study.
