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van Ommen CH, Peters M, Barth PG, Vreken P, Wanders RJA, Jaeken J. Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. The Journal of Pediatrics. 2000 Mar;136(3):400–3. doi: 10.1067/mpd.2000.103503. |