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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Molecular NeuroscienceRubinstein–taybi SyndromeDisease MechanismGenetic DisorderMendelian DisorderGeneticsInherited Metabolic DiseasePathologyCrebbp Deletion RepertoireMedicineLysosomal Storage DiseaseNovel Deletions