Need for a new international rare disease database: the MECP2 duplication syndrome
Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
| Published: |
WILEY-BLACKWELL
2015
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| Online Access: | http://hdl.handle.net/20.500.11937/19046 |