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    Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-ch...

    Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier… in Pediatric Radiology (2015)