The phenotype associated with a large deletion on MECP2
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
| Published: |
Nature Publishing Group
2012
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| Online Access: | http://hdl.handle.net/20.500.11937/22326 |