Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for both alternatives in two new families. A duplicatio...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
2005.
|
| Subjects: | |
| Online Access: | Get fulltext |