| PubMed ID |
|
24440784 |
Publish Date |
|
2014 Jan |
| Journal |
|
Gene |
Species |
|
Homo sapiens |
| Disease Type |
|
Loeys-Dietz syndrome |
Technology |
|
Array CGH |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene |
| Authors |
|
Paolo Fontana, Rita Genesio, Alberto Casertano, Gerarda Cappuccio, Angela Mormile, Lucio Nitsch, Achille Iolascon, Generoso Andria, Daniela Melis |
| Affiliation |
|
Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy |
| Chromothripsis Definition |
|
Close-by breakpoints: NA
Copy number states: 2
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 24440784_1 |
| |
|
|
| |
Case ID: |
24440784_1 |
| |
Chromosome: | 1,9,21 |
| |
Disease type: |
Loeys-Dietz syndrome |
| |
Technology: |
Array CGH |
| |
Platform: |
NimbleGen CGX-6 PKI Array |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File |
|  |  |
|
