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Additional Supporting Information may be found in the online version of this article.

FilenameFormatSizeDescription
ajmg_34384_sm_SupplFig1.tif7405KeFig. 1: Electropherograms showing the missense mutation in the patient and the normal sequence in her mother and father.
ajmg_34384_sm_SupplTab1.doc32KTable I: Primers used to amplify SMC1A coding sequence
ajmg_34384_sm_SupplTab2.doc52KTable II: Dysmorphia and minor anomalies of CdL 99/10 SMC1A-mutated patient

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