Tag Archives: ген CREBBP

Rubinstein-Taybi syndrome due to a novel mutation in the CREBBP gene

D. Atova1,2, Tr. Delchev1,2, M. Sredkova1, G. Zlatanova2,3, D. Kachakova4, N. Ivanova4, R. Kaneva2,4, D. Avdjieva-Tzavella1,2

1Department of Clinical genetics, University Pediatric Hospital, Sofia, Bulgaria
2Medical University of Sofia, Bulgaria
3Department of Paediatric Nephrology and Haemodialysis, University Pediatric Hospital, Sofia, Bulgaria
4Genome Diagnostics Laboratory, Center for Molecular Medicine, Sofia, Bulgaria