# Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/genetic-heterogeneity-in-rubinstein-taybi-syndrome-mutations-in-both-the-cbp-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jeroen Roelfsema,Stefan J. White,Yavuz Ariyürek,Deborah Bartholdi,Dunja Niedrist,Francesco Papadia,Carlos A. Bacino,Johan T. den Dunnen,Gert‐Jan B. van Ommen,Martijn H. Breuning,Raoul C. M. Hennekam,Dorien J.M. Peters |
| Citations | 484 |
| DOI | 10.1086/429130 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707628699/pdf |
| OpenAlex ID | https://openalex.org/W2140771931 |
| PMID | 15706485 |
| Type | article |
| Year | 2005 |

## Paper authors

- [Dorien J.M. Peters](https://scholariq.org/researchers/dorien-j-m-peters/)

## Paper primary topic

- [Congenital limb and hand anomalies](https://scholariq.org/topics/congenital-limb-and-hand-anomalies/)

## Paper topics

- [Congenital limb and hand anomalies](https://scholariq.org/topics/congenital-limb-and-hand-anomalies/)
- [Orthopedic Surgery and Rehabilitation](https://scholariq.org/topics/orthopedic-surgery-and-rehabilitation/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.