Isidor, B Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. [electronic resource] - American journal of medical genetics. Part A Jul 2010 - 1847-8 p. digital Publication Type: Case Reports; Journal Article ISSN: 1552-4833 Standard No.: 10.1002/ajmg.a.33480 doi Subjects--Topical Terms: CREB-Binding Protein--geneticsFemaleHirschsprung Disease--complicationsHumansInfant, NewbornMalePregnancyRubinstein-Taybi Syndrome--complicationsSequence Deletion--genetics