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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Mendelian DisorderGenetic DisorderGeneticsLange Syndrome-like PresentationPathologyDegenerative DiseaseMild CorneliaDisease Gene IdentificationMedicineLysosomal Storage DiseaseNovel Rad21 MutationsClinical Genetics